5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria. [ Orphanet : 33572 ]
This is just here as a test because I lose it
Term information
database
cross reference
- HP:0040142 (MONDO:otherHierarchy)
- UMLS:C0268525 (Orphanet:33572/e)
- OMIM:260005 (Orphanet:33572/e)
- SCTID:26132002 (MONDO:equivalentTo)
- GARD:0005681 (MONDO:equivalentTo)
- ICD9:270.8 (MONDO:relatedTo)
- Orphanet:33572 (OMIM:260005)
- MESH:C535322 (Orphanet:33572/e)
Subsets
ordo_disease
OBO foundry unique label
- 5-oxoprolinase deficiency (disease)
conformsTo
- http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml
- http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml
definition
- 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
exactMatch
- http://www.orpha.net/ORDO/Orphanet_33572
- https://omim.org/entry/260005
- http://identifiers.org/mesh/C535322
- http://identifiers.org/snomedct/26132002
- http://linkedlifedata.com/resource/umls/id/C0268525
has exact synonym
- inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder
- inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity
- oxoprolinuria due to oxoprolinase deficiency
- 5-oxoprolinase deficiency (disease)
- 5-oxoprolinase deficiency
- rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity
has related synonym
- OPLAHD
- oxoprolinuria due to 5-oxoprolinase deficiency
- 5-alpha-oxoprolinase deficiency
id
- MONDO:0009825
term tracker item
- https://github.com/monarch-initiative/mondo/issues/4985
Term relations
Equivalent to: