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Disease Ontology Browser
CASGID syndrome (DOID:0061156)
Alliance: disease page
Synonyms: Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
Alt IDs: OMIM:618339
Definition: A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32.

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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
07/29/2025
MGI 6.24 		The Jackson Laboratory