All terms in DOID

Label Id Description
obsolete familial hypertriglyceridemia DOID_0050527
hypotrichosis 3 DOID_0110700 [A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13.]
hypotrichosis 4 DOID_0110701 [A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3.]
hypotrichosis 11 DOID_0110708 [A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1.]
purine-pyrimidine metabolic disorder DOID_653 [An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.]
hypotrichosis 12 DOID_0110709 [A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2.]
obsolete congenital musculoskeletal abnormality DOID_652
hypotrichosis 9 DOID_0110706 [A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3.]
carbapenems CHEBI_46633
hypotrichosis 10 DOID_0110707 [A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3.]
hypotrichosis 7 DOID_0110704 [A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2.]
hypotrichosis 8 DOID_0110705 [A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2.]
hypotrichosis 5 DOID_0110702 [A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3.]
hypotrichosis 6 DOID_0110703 [A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1.]
Blastomyces dermatitidis NCBITaxon_5039
azobenzenes CHEBI_22682
kuru DOID_648
obsolete Polyomavirus infectious disease DOID_647 [A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer.]
obsolete demyelinating encephalopathy DOID_642
obsolete CNS demyelinating autoimmune disease DOID_641