Term Name: | oculocerebrorenal syndrome |
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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 ) |