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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,
Xenbase Genes
:
ocrl
| MONDO:0010645 - oculocerebrorenal syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked monogenic disease (is_a),
syndrome (is_a)