Neonatal-Onset Type Ii Citrullinemia
Disease ID: disease_node_13243
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| Dbxref | MIM:605814 |
|---|---|
| Subclassof | DOID_0050737, DOID_9273 |
| Data Source | DOID |
| Synonyms | neonatal-onset type 2 citrullinemia |
| Doid Label | neonatal-onset type II citrullinemia |
| Doid Description | A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13243 |
| Doid Id | DOID_0070341 |
| Label | Neonatal-Onset Type Ii Citrullinemia |
- Outgoing r'ship
SUBCLASS_OFto/from Citrullinemia(ID:disease_node_10132) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)