Congenital Glutamine Deficiency
Disease ID: disease_node_20535
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:9848, MIM:610015, ORDO:71278 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | GLND, congenital systemic glutamine synthase deficiency |
| Doid Label | congenital glutamine deficiency |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20535 |
| Doid Id | DOID_0070544 |
| Label | Congenital Glutamine Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)