Classic Citrullinemia
Disease ID: disease_node_13244
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| Dbxref | MIM:215700 |
|---|---|
| Subclassof | DOID_9273 |
| Data Source | DOID |
| Doid Label | classic citrullinemia |
| Doid Description | A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. |
| Disease Node Id | disease_node_13244 |
| Doid Id | DOID_0070340 |
| Label | Classic Citrullinemia |
- Outgoing r'ship
SUBCLASS_OFto/from Citrullinemia(ID:disease_node_10132) (Disease)