DISEASES

Disease-gene associations mined from literature

Human genes for oculocerebrorenal syndrome

Oculocerebrorenal syndrome [DOID:1056]

A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.

Synonyms:  oculocerebrorenal syndrome,  DOID:1056,  oculocerebrorenal disease,  oculocerebrorenal disorder,  oculocerebrorenal syndromes ...

Linkouts:  OMIM