DISEASES

Disease-gene associations mined from literature

Human genes for Lesch-Nyhan syndrome

Lesch-Nyhan syndrome [DOID:1919]

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 hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26.

Synonyms:  Lesch-Nyhan syndrome,  DOID:1919,  LeschNyhan syndrome,  Lesch-Nyhan disease,  Lesch-Nyhan disorder ...

Linkouts:  OMIM