Term Name: oculocerebrorenal syndrome
Synonyms: lowe oculocerebrorenal syndrome, Lowe syndrome, oculocerebrorenal syndrome of Lowe
Definition: 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.
Ontology: Human Disease [DOID:1056]   ( DOID:1056 )

Relationships
is a type of: syndrome X-linked recessive disease