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Disease Ontology Browser
oculocerebrorenal syndrome (DOID:1056)
Alliance: disease page
Synonyms: lowe oculocerebrorenal syndrome; Lowe syndrome; oculocerebrorenal syndrome of Lowe
Alt IDs: OMIM:309000, ICD10CM:E72.03, MESH:D009800, NCI:C84940, ORDO:534, UMLS_CUI:C0028860
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory