very long chain acyl-CoA dehydrogenase deficiency
Go to external page http://purl.obolibrary.org/obo/MONDO_0008723
An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. [ Orphanet : 26793 ]
This is just here as a test because I lose it
Term information
database
cross reference
- GARD:0005508 (MONDO:equivalentTo)
- NCIT:C98647 (MONDO:equivalentTo)
- ICD10CM:E71.310 (MONDO:equivalentTo)
- SCTID:237997005 (MONDO:equivalentTo)
- DOID:0080155 (MONDO:equivalentTo)
- OMIM:201475 (Orphanet:26793/e)
- UMLS:C3887523 (Orphanet:26793)
- UMLS:C0342784 (OMIM:201475)
- Orphanet:26793 (OMIM:201475)
Subsets
ordo_disease, clingen
definition
- An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
exactMatch
- http://purl.obolibrary.org/obo/DOID_0080155
- http://www.orpha.net/ORDO/Orphanet_26793
- http://purl.obolibrary.org/obo/NCIT_C98647
- http://purl.bioontology.org/ontology/ICD10CM/E71.310
- http://identifiers.org/snomedct/237997005
- http://linkedlifedata.com/resource/umls/id/C3887523
- https://omim.org/entry/201475
excluded from qc check
- http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
has exact synonym
- VLCADD
- VLCAD
- very long-chain acyl-Coenzyme A dehydrogenase deficiency
- VLCAD deficiency
- very long-chain acyl-CoA dehydrogenase deficiency
- acyl-CoA dehydrogenase, very long-chain deficiency
- very long chain acyl-CoA dehydrogenase deficiency
has related synonym
- acyl-CoA dehydrogenase, very long-chain, deficiency OF
- ACADVLD
id
- MONDO:0008723
Term relations
Equivalent to: