Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Charcot-Marie-Tooth disease type 1E	DOID_0110153	[A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).]
combined oxidative phosphorylation deficiency 18	DOID_0111484	[A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in SFXN4 on chromosome 10q26.11.]
Astrakhan spotted fever	DOID_0050041	[A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.]
Rickettsia conorii	NCBITaxon_781
Charcot-Marie-Tooth disease type 2A1	DOID_0110154	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.]
combined oxidative phosphorylation deficiency 24	DOID_0111485	[A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1.]
Charcot-Marie-Tooth disease type 1C	DOID_0110151	[A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13.]
combined oxidative phosphorylation deficiency 36	DOID_0111482	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS2 on chromosome 9q34.3.]
Israeli tick typhus	DOID_0050043	[A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.]
Charcot-Marie-Tooth disease type 1B	DOID_0110152	[A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).]
combined oxidative phosphorylation deficiency 2	DOID_0111483	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2.]
Indian tick typhus	DOID_0050042	[A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.]
combined oxidative phosphorylation deficiency 10	DOID_0111480	[A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13.]
Charcot-Marie-Tooth disease type 1D	DOID_0110150	[A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).]
combined oxidative phosphorylation deficiency 11	DOID_0111481	[A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1.]
Flinders Island spotted fever	DOID_0050047	[A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.]
Far Eastern spotted fever	DOID_0050046	[A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.]
Charcot-Marie-Tooth disease type 2B	DOID_0110159	[A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.]
Charcot-Marie-Tooth disease type 2J	DOID_0110157	[A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.]
combined oxidative phosphorylation deficiency 31	DOID_0111488	[A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in MIPEP on chromosome 13q12.12.]