Hyperprolinemia Type 1
Disease ID: disease_node_20530
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| Dbxref | MIM:239500, ORDO:419 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080541 |
| Data Source | DOID |
| Synonyms | hyperprolinemia type I |
| Doid Label | hyperprolinemia type 1 |
| Doid Description | A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20530 |
| Doid Id | DOID_0080542 |
| Label | Hyperprolinemia Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Hyperprolinemia(ID:disease_node_20529) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)