Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: hprt-1 (Cel)
Disease
Source: DOID:684
Definition: A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
Genes: hprt-1 (Cel)
Disease
Source: DOID:1919
Definition: A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
Genes: hprt-1 (Cel)
Disease
Source: DOID:0112127
Definition: A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.
Genes: hprt-1 (Cel)