Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
xeroderma pigmentosum group G	DOID_0110849	[A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.]
xeroderma pigmentosum variant type	DOID_0110847	[A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1.]
xeroderma pigmentosum group F	DOID_0110848	[A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.]
xeroderma pigmentosum group D	DOID_0110845	[A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.]
epididymal neoplasm	DOID_512
skin of trunk	UBERON_0001085
xeroderma pigmentosum group E	DOID_0110846	[A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11.]
gallbladder carcinoma in situ	DOID_0050612	[An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma.]
pharynx carcinoma in situ	DOID_0050611	[An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma.]
bronchus carcinoma in situ	DOID_0050614	[An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma.]
bile duct carcinoma in situ	DOID_0050613	[An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma.]
obsolete malignant Leydig cell tumor	DOID_0050616
Usher syndrome type 1F	DOID_0110832	[An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q.]
adjustment disorder	DOID_507	[A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred.]
Usher syndrome type 1E	DOID_0110833	[An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21.]
Usher syndrome type 1C	DOID_0110830	[An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15.]
hobnail hemangioma	DOID_505
Usher syndrome type 1D	DOID_0110831	[An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.]
acrokeratosis verruciformis	DOID_0050606	[A keratosis that has_material_basis_in mutations in the ATP2A2 gene.]
Usher syndrome type 2A	DOID_0110838	[An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.]