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medium chain acyl-CoA dehydrogenase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0008721

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. [ Orphanet:42 ]

Synonyms: MCAD deficiency medium chain acyl-coenzyme A dehydrogenase deficiency ACADM deficiency MCADD acyl-CoA dehydrogenase, medium-chain deficiency medium chain acyl-CoA dehydrogenase deficiency medium-chain acyl-CoA dehydrogenase deficiency medium-chain acyl-Coenzyme A dehydrogenase deficiency MCAD Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase, medium chain, deficiency of

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:540 (Orphanet:42)
  • OMIM:201450 (Orphanet:42/e)
  • NCIT:C84538 (MONDO:equivalentTo)
  • Orphanet:42 (OMIM:201450)
  • MESH:C536038 (Orphanet:42/e)
  • SCTID:128596003 (MONDO:equivalentTo)
  • UMLS:C0220710 (Orphanet:42/e)
  • DOID:0080153 (MONDO:equivalentTo)
  • ICD9:277.85 (MONDO:relatedTo)
  • ICD10CM:E71.311 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://purl.obolibrary.org/obo/DOID_0080153

http://linkedlifedata.com/resource/umls/id/C0220710

http://www.orpha.net/ORDO/Orphanet_42

http://purl.obolibrary.org/obo/NCIT_C84538

http://identifiers.org/snomedct/128596003

http://identifiers.org/mesh/C536038

http://purl.bioontology.org/ontology/ICD10CM/E71.311

https://omim.org/entry/201450

has related synonym

acyl-CoA dehydrogenase medium chain deficiency of

ACADMD

Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency

medium chain acyl CoA dehydrogenase deficiency

acyl-CoA dehydrogenase, medium-chain, deficiency OF

Mcadh deficiency

id

MONDO:0008721

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008721

Term relations