Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Neoplasm of the ear	HP_0012780	[A tumor (abnormal growth of tissue) of the ear.]
schizophrenia 18	DOID_0070093	[A schizophrenia that has_material_basis_in a mutation of SLC1A1 on chromosome 9p24.2.]
oculocutaneous albinism type IA	DOID_0070094	[An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.]
N6_isopentenyladenosine	SO_0001300	[N6_isopentenyladenosine is a modified adenosine.]
autosomal dominant non-syndromic intellectual disability 36	DOID_0070066	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41.]
autosomal dominant non-syndromic intellectual disability	DOID_0060307	[A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.]
White-Sutton syndrome	DOID_0070067	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of POGZ on chromosome 1q21.3.]
autosomal dominant non-syndromic intellectual disability 34	DOID_0070064	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of COL4A3BP on chromosome 5q13.3.]
autosomal dominant non-syndromic intellectual disability 35	DOID_0070065	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.]
autosomal dominant non-syndromic intellectual disability 32	DOID_0070062	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KAT6A on chromosome 8p11.21.]
Abnormality of the lymphatic system	HP_0100763	[An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.]
Abnormality of the immune system	HP_0002715	[An abnormality of the immune system.]
autosomal dominant non-syndromic intellectual disability 33	DOID_0070063	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DPP6 on chromosome 7q36.2.]
autosomal dominant non-syndromic intellectual disability 30	DOID_0070060	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ZMYND11 on chromosome 10p15.3.]
Abnormality of the tonsils	HP_0100765	[An abnormality of the tonsils.]
autosomal dominant non-syndromic intellectual disability 31	DOID_0070061	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PURA on chromosome 5q31.3.]
autosomal dominant non-syndromic intellectual disability 38	DOID_0070068	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EEF1A2 on chromosome 20q13.33.]
autosomal dominant non-syndromic intellectual disability 39	DOID_0070069	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3.]
autosomal dominant non-syndromic intellectual disability 40	DOID_0070070	[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene (616327) on chromosome 13q34.]
schizophrenia 1	DOID_0070077	[A schizophrenia that has_material_basis_in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.]