| Term Name: | hyperprolinemia type 2 |
|---|---|
| Synonyms: | hyperprolinemia type II |
| Definition: | A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. |
| Ontology: | Human Disease [DOID:0080543] ( DOID:0080543 ) |