Search Ontology:
Human Disease
hydroxyprolinemia
- Term ID
- DOID:0051100
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0051100 )
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Genes Involved
Zebrafish Models