Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete generalized hyperhidrosis	DOID_9189
vestibule of mouth cancer	DOID_9188
beta-lactam antibiotic	CHEBI_27933	[An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring.]
obsolete cataplexy and narcolepsy	DOID_9199
susceptibility to autism 13	OMIM_610908
obsolete Sezary's disease involving intrathoracic lymph nodes	DOID_9198
cone-rod dystrophy 6	DOID_0111011	[A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.]
cone-rod dystrophy 7	DOID_0111012	[A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RIMS1 gene on chromosome 6q13.]
cone-rod dystrophy 5	DOID_0111010	[A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1.]
cephem	CHEBI_38311
cone-rod dystrophy 12	DOID_0111019	[A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15.]
cone-rod dystrophy 10	DOID_0111017	[A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22.]
chemical substance	CHEBI_59999	[A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types.]
cone-rod dystrophy 11	DOID_0111018	[A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13.]
Newfoundland cone-rod dystrophy	DOID_0111015	[A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.]
cone-rod dystrophy 13	DOID_0111016	[A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2.]
rectum carcinoma in situ	DOID_9174	[An in situ carcinoma that is located_in the rectum.]
cone-rod dystrophy 3	DOID_0111013	[A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22.]
submandibular gland cancer	DOID_9173
apocrine gland	UBERON_0008974