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Summary Literature (0)
DOID:0080543 - hyperprolinemia type 2

Disease Ontology Definition: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 II

Xenbase Genes : aldh4a1


MIM:
MIM:239510 - HYPERPROLINEMIA, TYPE II; HYRPRO2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), hyperprolinemia (is_a)