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3-methylcrotonyl-CoA carboxylase deficiency

Go to external page 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 ]

Synonyms: 3-methylcrotonylglycinuria Methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency MCCD 3-MCC deficiency 3MCC deficiency BMCC deficiency MCC deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:13144005 (MONDO:equivalentTo)
  • DOID:0050710 (MONDO:equivalentTo)
  • NCIT:C98674 (MONDO:equivalentTo)
  • GARD:10954 (Orphanet:6)
  • UMLS:C4551505 (MONDO:equivalentTo)
  • Orphanet:6 (MONDO:equivalentTo)
  • OMIMPS:210200 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_6

http://linkedlifedata.com/resource/umls/id/C4551505

http://purl.obolibrary.org/obo/DOID_0050710

https://omim.org/phenotypicSeries/PS210200

http://purl.obolibrary.org/obo/NCIT_C98674

http://identifiers.org/snomedct/13144005

has related synonym

methylcrotonylglycinuria

id

MONDO:0018950

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018950

Term relations