OBO ID: DOID:1056 |
Term Name: | oculocerebrorenal syndrome | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:1056 ) |
OTHER oculocerebrorenal syndrome PAGES
ZEBRAFISH MODELS
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