Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Leber congenital amaurosis 14	DOID_0110188	[A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31.]
prolapse of lacrimal gland	DOID_11134
Leber congenital amaurosis 15	DOID_0110189	[A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.]
Charcot-Marie-Tooth disease type 4B2	DOID_0110190	[A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.]
capillariasis	DOID_12474	[A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species.]
Capillaria	NCBITaxon_119095
Charcot-Marie-Tooth disease axonal type 2O	DOID_0110175	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.]
Charcot-Marie-Tooth disease axonal type 2X	DOID_0110176	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.]
Charcot-Marie-Tooth disease axonal type 2U	DOID_0110173	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13.]
Charcot-Marie-Tooth disease axonal type 2L	DOID_0110174	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.]
bladder organ	UBERON_0018707
Charcot-Marie-Tooth disease axonal type 2S	DOID_0110171	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.]
obsolete Charcot-Marie-Tooth disease axonal type 2G	DOID_0110172
Charcot-Marie-Tooth disease axonal type 2Q	DOID_0110170	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.]
hypersecretion glaucoma	DOID_11148
aqueous misdirection	DOID_11149
Charcot-Marie-Tooth disease type 2B2	DOID_0110179	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.]
obsolete vascular lesions of cord complicating labor and delivery	DOID_11147
obsolete anthrax septicemia	DOID_11144
Charcot-Marie-Tooth disease axonal type 2N	DOID_0110177	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.]