Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
thrombocytopenia	DOID_1588	[A blood platelet disease characterized by low a platelet count in the blood.]
fructose-1,6-bisphosphatase deficiency	DOID_5204	[A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.]
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	DOID_0090119	[An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.]
monodermal teratoma	DOID_5207	[An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm).]
benign struma ovarii	DOID_5209	[An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue.]
maxillary sinus inverted papilloma	DOID_7868
maxillary sinus neoplasm	DOID_1358
malignant struma ovarii	DOID_5208	[A struma ovarii that is cancerous.]
struma ovarii	DOID_2640	[An ovarian germ cell monodermal and highly specialized teratoma that is composed either exclusively or predominantly of thyroid tissue.]
susceptibility to neonatal pulmonary hypertension	OMIM_615371
lethal congenital glycogen storage disease of heart	DOID_0090101	[A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.]
autosomal dominant macrothrombocytopenia TUBB1-related	DOID_0090102	[A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.]
ocular albinism with sensorineural deafness	DOID_0090100	[An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.]
ocular albinism	DOID_0050633	[An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.]
autosomal recessive hypercholesterolemia	DOID_0090105	[A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.]
familial hypercholesterolemia	DOID_13810	[A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.]
acne	DOID_6543	[A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.]
Bh4-deficient hyperphenylalaninemia A	DOID_0090106	[An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.]
obsolete transient organic mental disorder	DOID_6540
congenital disorder of glycosylation	DOID_5212	[A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.]