Term Name:	hydroxyprolinemia
Synonyms:	4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY
Definition:	An amino acid metabolic disorder that is characterized by elevated hydroxyproline levels, caused by a deficiency of the hydroxyproline oxidase enzyme resulting in deficient degradation of hydroxyproline, and that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase-2 (PRODH2) gene on chromosome 19q13.
Ontology:	Human Disease [DOID:0051100]   ( DOID:0051100 )