Agat Deficiency
Disease ID: disease_node_20543
Connections displayed (default: 10).
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| Dbxref | MIM:612718 |
|---|---|
| Subclassof | DOID_0050798, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Cerebral creatine deficiency syndrome 3, arginine glycine amidinotransferase deficiency |
| Doid Label | AGAT deficiency |
| Doid Description | An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20543 |
| Doid Id | DOID_0050712 |
| Label | Agat Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Cerebral Creatine Deficiency Syndrome(ID:disease_node_20541) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)