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ID	DOID:0051100
PURL	http://purl.obolibrary.org/obo/DOID_0051100 Copy Copied!
Name	hydroxyprolinemia
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. https://pubmed.ncbi.nlm.nih.gov/27139199/, https://lhncbc.nlm.nih.gov/newbornscreeningcodes/nb/sc/condition/OH-PRO.html
Xrefs	MIM:237000
Synonyms	4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY [EXACT]
Parent Relationships	is_a amino acid metabolic disorder is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance