Details of Disease | DrugMAP

General Information of Disease (ID: DISL6XCL)

Disease Name	Hydroxyprolinemia
Synonyms	4-hydroxy-L-proline oxidase deficiency; HYDROXYPROLINEMIA; 4 alpha hydroxy-L-proline oxidase deficiency; Hydroxyprolinemia; hydroxyprolinemia (disease); hydroxyprolinemia
Disease Hierarchy	DISYKSRF: Genetic disease DISL6XCL: Hydroxyprolinemia
Disease Identifiers	MONDO ID MONDO_0009374 MESH ID C562669 UMLS CUI C0268531 OMIM ID 237000 MedGen ID 75691 HPO ID HP:0003260 SNOMED CT ID 25739007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRODH2	OTHO2TO0	Limited	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.