Summary Literature (0)

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,

Echinobase Genes :


OMIM:

MIM:309000 - lowe oculocerebrorenal syndrome; ocrl

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee