FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term 3-methylcrotonyl-CoA carboxylase 2 deficiency ID (Ontology) DOID:0080580 (Human Disease)
Definition A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 3-methylcrotonyl-CoA carboxylase 2 deficiency       1      1
 for disease ribbon | 3-methylcrotonyl-CoA carboxylase 2 deficiency       --       1
 model of | 3-methylcrotonyl-CoA carboxylase 2 deficiency       1      1
Spanning Tree (Parents/Children)
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autosomal recessive disease____
muscular disease_______________|
amino acid metabolic disorder__|
                               3-methylcrotonyl-CoA carboxylase deficiency
                                |__3-methylcrotonyl-CoA carboxylase 2 deficiency  2 rec.
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Is a 3-methylcrotonyl-CoA carboxylase deficiency
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MESH:C535309
MIM:210210