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3-methylcrotonyl-CoA carboxylase 2 deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008862

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • MESH:C535309 (MONDO:equivalentTo)
  • GARD:0009151 (MONDO:equivalentTo)
  • OMIM:210210 (MONDO:equivalentTo)
  • DOID:0080580 (MONDO:equivalentTo)
abbreviation
MCC2D [ MONDO:Lexical OMIM:210210 ]

definition

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.

exactMatch

http://identifiers.org/mesh/C535309, http://purl.obolibrary.org/obo/DOID_0080580, https://omim.org/entry/210210

has exact synonym

3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2, 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2 3-methylcrotonyl-CoA carboxylase deficiency

has related synonym

3-METHYLCROTONYL-CoA carboxylase 2 deficiency, 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency, MCC2D, MCC 2 deficiency, methylcrotonylglycinuria type 2, methylcrotonylglycinuria, type 2, 3-methylcrotonylglycinuria 2, 3 alpha methylcrotonylglycinuria 2, MCC2 deficiency

id

MONDO:0008862

Term relations