DISEASES

Disease-gene associations mined from literature

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