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Disease Ontology Browser
congenital glutamine deficiency (DOID:0070544)
Alliance: disease page
Synonyms: congenital systemic glutamine synthase deficiency; GLND
Alt IDs: OMIM:610015, ORDO:71278
Definition: An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3.

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
12/10/2024
MGI 6.24 		The Jackson Laboratory