Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
combined oxidative phosphorylation deficiency 12	DOID_0111493	[A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2.]
combined oxidative phosphorylation deficiency 4	DOID_0111494	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2.]
Charcot-Marie-Tooth disease axonal type 2F	DOID_0110163	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).]
obsolete Rickettsia honei spotted fever	DOID_0050053
Charcot-Marie-Tooth disease axonal type 2T	DOID_0110160	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.]
combined oxidative phosphorylation deficiency 15	DOID_0111491	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in MTFMT on chromosome 15q22.31.]
Charcot-Marie-Tooth disease type 2R	DOID_0110161	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.]
combined oxidative phosphorylation deficiency 32	DOID_0111492	[A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in MRPS34 on chromosome 16p13.3.]
combined oxidative phosphorylation deficiency 26	DOID_0111490	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT5 on chromosome 14q23.1.]
Necator americanus	NCBITaxon_51031
Necator	NCBITaxon_51030
Charcot-Marie-Tooth disease type 2Y	DOID_0110168	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.]
combined oxidative phosphorylation deficiency 37	DOID_0111499	[A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3.]
Charcot-Marie-Tooth disease axonal type 2P	DOID_0110169	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.]
combined oxidative phosphorylation deficiency 34	DOID_0111497	[A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in MRPS7 on chromosome 17q25.1.]
Charcot-Marie-Tooth disease axonal type 2H	DOID_0110166	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.]
Japanese spotted fever	DOID_0050050	[A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.]
Charcot-Marie-Tooth disease axonal type 2K	DOID_0110167	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.]
combined oxidative phosphorylation deficiency 22	DOID_0111498	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in ATP5A1 on chromosome 18q21.1.]
oropharyngeal anthrax	DOID_0050059	[A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.]