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
|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