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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 ]

Synonyms: very long-chain acyl-Coenzyme A dehydrogenase deficiency VLCADD very long chain acyl-CoA dehydrogenase deficiency very long-chain acyl-CoA dehydrogenase deficiency VLCAD deficiency acyl-CoA dehydrogenase, very long-chain deficiency VLCAD

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:5508 (Orphanet:26793)
  • NCIT:C98647 (MONDO:equivalentTo)
  • OMIM:201475 (Orphanet:26793/e)
  • UMLS:C3887523 (Orphanet:26793)
  • UMLS:C0342784 (OMIM:201475)
  • DOID:0080155 (MONDO:equivalentTo)
  • Orphanet:26793 (OMIM:201475)
  • SCTID:237997005 (MONDO:equivalentTo)
  • NORD:1827 (MONDO:NORD)
  • ICD10CM:E71.310 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_26793

http://identifiers.org/snomedct/237997005

https://omim.org/entry/201475

http://purl.obolibrary.org/obo/NCIT_C98647

http://purl.bioontology.org/ontology/ICD10CM/E71.310

http://linkedlifedata.com/resource/umls/id/C3887523

http://purl.obolibrary.org/obo/DOID_0080155

has related synonym

ACADVLD

acyl-CoA dehydrogenase, very long-chain, deficiency OF

id

MONDO:0008723

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008723