Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete secondary syphilitic lymphadenitis	DOID_13471
autosomal dominant adult-onset proximal spinal muscular atrophy	DOID_0111194	[A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13.]
obsolete primary anal syphilis	DOID_13470	[A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum.]
erythrokeratodermia variabilis et progressiva 1	DOID_0111195	[An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3.]
facioscapulohumeral muscular dystrophy 1	DOID_0111192	[A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.]
facioscapulohumeral muscular dystrophy 2	DOID_0111193	[A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.]
alveolar echinococcosis	DOID_12148	[An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.]
echinococcosis	DOID_1496	[A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.]
balanitis xerotica obliterans	DOID_13477	[A balantitis characterized by white plaques or patches on genitals.]
balanitis	DOID_13033
detrusor sphincter dyssynergia	DOID_12145
lymphocytic choriomeningitis	DOID_12155	[A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting.]
distal muscular dystrophy with anterior tibial onset	DOID_0111187	[A distal muscular dystrophy characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous or compound heterozygous mutation in DYSF on 2p13.]
myofibrillar myopathy 9	DOID_0111188	[A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.]
obsolete disorganized type schizophrenia chronic state	DOID_13484
myopathy, lactic acidosis, and sideroblastic anemia 1	DOID_0111185	[A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.]
myopathy, lactic acidosis, and sideroblastic anemia 2	DOID_0111186	[A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.]
obsolete currently pregnant habitual aborter	DOID_12151
Proteus syndrome	DOID_13482	[A syndrome that is characterized by overgrowth of the bones, skin, and other tissues.]
familial hemiplegic migraine 3	DOID_0111183	[A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.]