hyperprolinemia type 1

Term ID

DOID:0080542

Synonyms

• hyperprolinemia type I

Definition

A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. https://ghr.nlm.nih.gov/condition/hyperprolinemia

References

• OMIM:239500
• ORDO:419

Ontology

Human Disease   ( DOID:0080542 )