Hypervalinemia And Hyperleucine-Isoleucinemia
Disease ID: disease_node_20536
Connections displayed (default: 10).
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| Dbxref | MIM:618850 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | branched-chain aminotransferase 2 deficiency |
| Doid Label | hypervalinemia and hyperleucine-isoleucinemia |
| Doid Description | An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20536 |
| Doid Id | DOID_0060950 |
| Label | Hypervalinemia And Hyperleucine-Isoleucinemia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)