| Metadata | |
|---|---|
| ID | DOID:0080542 |
| Name | hyperprolinemia type 1 |
| Definition | A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. https://ghr.nlm.nih.gov/condition/hyperprolinemia |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
hyperprolinemia type I [EXACT] |
| Parent Relationships |
is_a hyperprolinemia |