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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 oculocerebrorenal syndrome, Lowe syndrome, oculocerebrorenal syndrome of Lowe

Xenbase Genes : ocrl

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010645 - oculocerebrorenal syndrome

MIM:
MIM:309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a), X-linked monogenic disease (is_a), X-linked recessive disease (is_a)