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very long chain acyl-CoA dehydrogenase deficiency

^ 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 ]

Term info

database cross reference
  • DOID:0080155 (MONDO:equivalentTo)
  • ICD10CM:E71.310 (MONDO:equivalentTo)
  • UMLS:C3887523 (Orphanet:26793)
  • GARD:0005508 (MONDO:equivalentTo)
  • OMIM:201475 (Orphanet:26793/e)
  • NCIT:C98647 (MONDO:equivalentTo)
  • SCTID:237997005 (MONDO:equivalentTo)
  • Orphanet:26793 (OMIM:201475)
  • UMLS:C0342784 (OMIM:201475)
Subsets

ordo_disease, clingen

abbreviation
ACADVLD [ OMIM:201475 MONDO:Lexical ]

abbreviation
VLCADD [ Orphanet:26793 ]

abbreviation
VLCAD [ NCIT:C98647 ]

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://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/Orphanet_26793, http://purl.obolibrary.org/obo/DOID_0080155

has exact synonym

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

has related synonym

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

id

MONDO:0008723

Term relations