All terms in DOID

Label Id Description
jugular foramen UBERON_0005456
combined oxidative phosphorylation deficiency 38 DOID_0111466 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1.]
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.]
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 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 the PNPT1 gene on chromosome 2p16.1.]
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 the TRIT1 gene 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 either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene 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.]
combined oxidative phosphorylation deficiency 33 DOID_0111495 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.]
Charcot-Marie-Tooth disease type 2D DOID_0110164 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene.]
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.]
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 the ELAC2 gene on chromosome 17p12.]
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.]
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.]
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 the EARS2 gene on chromosome 16p12.2.]
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.]
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).]
combined oxidative phosphorylation deficiency 4 DOID_0111494 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2.]