hyperprolinemia type 2

Term ID

DOID:0080543

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. https://ghr.nlm.nih.gov/condition/hyperprolinemia

References

• MESH:C538385
• MIM:239510
• ORDO:79101

Ontology

Human Disease   ( DOID:0080543 )