Human genes for hyperprolinemia type 2
Hyperprolinemia type 2 [DOID:0080543]
A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.
Synonyms: hyperprolinemia type 2, DOID:0080543, hyperprolinemia type II, hyperprolinemia type IIs