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Summary Literature (1)
DOID:1056 - oculocerebrorenal syndrome


Disease Ontology 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.

Synonyms: Lowe syndrome, lowe oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe

Referenced OMIM:
OMIM:309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ocrl

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): X-linked disease (is_a), syndrome (is_a)


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