FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term CASGID syndrome ID (Ontology) DOID:0061156 (Human Disease)
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.
Also Known As "Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development"
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 Genes
 CASGID syndrome       1
 for disease ribbon | CASGID syndrome       1
 model of | CASGID syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                CASGID syndrome  1 rec.
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Is a autosomal dominant disease
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Synonyms
  • "Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development" EXACT [] {comment="Formerly"}
Secondary IDs
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MIM:618339