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3-methylcrotonyl-CoA carboxylase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0018950

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. [ Orphanet:6 ]

Term info

database cross reference
  • DOID:0050710 (MONDO:equivalentTo)
  • UMLS:C0268600 (Orphanet:6/e)
  • OMIMPS:210200 (MONDO:equivalentTo)
  • NCIT:C98674 (MONDO:equivalentTo)
  • SCTID:13144005 (MONDO:equivalentTo)
  • GARD:0010954 (MONDO:equivalentTo)
  • UMLS:CN239165 (MONDO:equivalentTo)
  • Orphanet:6 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
MCCD [ Orphanet:6 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

definition

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN239165, http://linkedlifedata.com/resource/umls/id/C0268600, http://purl.obolibrary.org/obo/DOID_0050710, https://omim.org/phenotypicSeries/PS210200, http://purl.obolibrary.org/obo/NCIT_C98674, http://purl.obolibrary.org/obo/Orphanet_6, http://identifiers.org/snomedct/13144005

has exact synonym

3-methylcrotonylglycinuria, Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, MCCD, 3-MCC deficiency, 3MCC deficiency, BMCC deficiency, MCC deficiency

has related synonym

methylcrotonylglycinuria

id

MONDO:0018950

Term relations