| Metadata | |
|---|---|
| ID | DOID:0080543 |
| Name | hyperprolinemia type 2 |
| Definition | A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. https://ghr.nlm.nih.gov/condition/hyperprolinemia |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
hyperprolinemia type II [EXACT] |
| Parent Relationships |
is_a hyperprolinemia |