Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
combined oxidative phosphorylation deficiency 16	DOID_0111469	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in MRPL44 on chromosome 2q36.1.]
Bardet-Biedl syndrome 16	DOID_0110138	[A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43.]
jugular foramen	UBERON_0005456
Bardet-Biedl syndrome 13	DOID_0110135	[A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.]
combined oxidative phosphorylation deficiency 38	DOID_0111466	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS14 on chromosome 1q25.1.]
combined oxidative phosphorylation deficiency 13	DOID_0111467	[A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1.]
Bardet-Biedl syndrome 14	DOID_0110136	[A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.]
combined oxidative phosphorylation deficiency 35	DOID_0111464	[A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in TRIT1 on chromosome 1p34.2.]
Bardet-Biedl syndrome 11	DOID_0110133	[A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33.]
combined oxidative phosphorylation deficiency 21	DOID_0111465	[A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in TARS2 on chromosome 1q21.2.]
Bardet-Biedl syndrome 12	DOID_0110134	[A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.]
human monocytic ehrlichiosis	DOID_0050026	[An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash.]
Charcot-Marie-Tooth disease type 2D	DOID_0110164	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS).]
combined oxidative phosphorylation deficiency 33	DOID_0111495	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C1QBP on chromosome 17p13.2.]
Rocky Mountain spotted fever	DOID_0050052	[A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.]
Rickettsia rickettsii	NCBITaxon_783
Charcot-Marie-Tooth disease type 2E	DOID_0110165	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.]
combined oxidative phosphorylation deficiency 17	DOID_0111496	[A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12.]
Rickettsia parkeri spotted fever	DOID_0050051	[A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash.]
Charcot-Marie-Tooth disease, axonal type 2W	DOID_0110162	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31.]