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Disease Ontology Browser
hydroxyprolinemia (DOID:0051100)
Alliance: disease page
Synonyms: 4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY
Alt IDs: OMIM:237000
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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07/14/2026
MGI 6.24 		The Jackson Laboratory