Term Name: | hyperprolinemia type 2 |
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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 ) |