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3-methylcrotonyl-CoA carboxylase 1 deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008861

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • MESH:C535308 (MONDO:equivalentTo)
  • DOID:0080579 (MONDO:equivalentTo)
  • OMIM:210200 (MONDO:equivalentTo)
  • UMLS:CN028786 (MONDO:ncbi_mim2gene_medline)
  • GARD:0005665 (MONDO:equivalentTo)
Subsets

gard_rare

abbreviation
MCC1D [ MONDO:Lexical MESH:C535308 OMIM:210200 ]

definition

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN028786, http://identifiers.org/mesh/C535308, http://purl.obolibrary.org/obo/DOID_0080579, https://omim.org/entry/210200

has alternative id

MONDO:0022326

has exact synonym

3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1, 3-Methylcrotonyl-Coa carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1 3-methylcrotonyl-CoA carboxylase deficiency

has related synonym

Mccd type 1, 3-Methylcrotonyl-Coenzyme A carboxylase deficiency, 3-MCC deficiency, MCCD type 1, Mcc1 deficiency, Bmcc deficiency, MCC deficiency, 3-methylcrotonylglycinuria, methylcrotonylglycinuria type 1, 3-methylcrotonylglycinuria I, 3 methylcrotonylglycinuria, Methylcrotonyl-Coa carboxylase deficiency, deficiency of methylcrotonoyl-Coa carboxylase, MCC 1 deficiency, 3 alpha methylcrotonylglycinuria 1, MCC1 deficiency, methylcrotonoyl-CoA carboxylase 1 deficiency, 3-METHYLCROTONYL-CoA carboxylase 1 deficiency, 3 Alpha methylcrotonylglycinuria 1, 3-methylcrotonylglycinuria 1, 3 Methylcrotonyl-CoA carboxylase 1 deficiency, 3 Methylcrotonyl-CoA carboxylase deficiency, MCC1D, methylcrotonylglycinuria type I, 3-Methylcrotonyl-Coa carboxylase deficiency

id

MONDO:0008861

seeAlso

https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency