All terms in DOID

Label Id Description
obsolete Rickettsia honei spotted fever DOID_0050053
combined oxidative phosphorylation deficiency 15 DOID_0111491 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31.]
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 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 the MRPS34 gene on chromosome 16p13.3.]
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.]
Ocular anterior segment dysgenesis HP_0007700
combined oxidative phosphorylation deficiency 26 DOID_0111490 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1.]
Necator americanus NCBITaxon_51031
Necator NCBITaxon_51030
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 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.]
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.]
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.]
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 the MRPS7 gene on chromosome 17q25.1.]
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 the ATP5A1 gene 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.]
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 the SFXN4 gene on chromosome 10q26.11.]