Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
respiratory syncytial virus infectious disease	DOID_1273	[A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.]
telangiectasis	DOID_1272
autosomal dominant nonsyndromic deafness 51	DOID_0110577	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.]
autosomal dominant nonsyndromic deafness 52	DOID_0110578	[An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32.]
hereditary hemorrhagic telangiectasia	DOID_1270	[A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.]
autosomal dominant nonsyndromic deafness 5	DOID_0110575	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.]
autosomal dominant nonsyndromic deafness 50	DOID_0110576	[An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32.]
autosomal dominant nonsyndromic deafness 4A	DOID_0110573	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33.]
autosomal dominant nonsyndromic deafness 4B	DOID_0110574	[An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13.]
obsolete Conjunctival vascular disorder and cysts	DOID_1249
ocular hyperemia	DOID_1248
labia minora cancer	DOID_1243	[A vulva cancer that is located_in the labium minora.]
luxation of globe	DOID_1241
malignant histiocytic disease	DOID_2570
Langerhans-cell histiocytosis	DOID_2571	[A histiocytosis that is characterized by clonal proliferation of Langerhans cells.]
obsolete drug-induced delirium	DOID_2573
obsolete diabetes mellitus insulin dependent type uncontrolled with renal manifestations	DOID_2574
barbiturate dependence	DOID_2575	[A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.]
autosomal dominant nonsyndromic deafness 9	DOID_0110593	[An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12.]
primary ciliary dyskinesia 1	DOID_0110594	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.]