2-Methylbutyryl-Coa dehydrogenase deficiency

Preferred Label : 2-Methylbutyryl-Coa dehydrogenase deficiency;

MeSH note : mutation in ACADSB;

CISMeF synonym : Short/Branched-Chain Acyl-Coa dehydrogenase deficiency;

MeSH synonym : SBCADD; 2-Methylbutyryl glycinuria; 2-MBCD deficiency; 2-Methylbutyryl-Coenzyme A dehydrogenase deficiency; Short-Branched-Chain Acyl-CoA dehydrogenase deficiency; Elevated urinary 2-methylbutyrylglycine; Elevated urinary 2-ethylhydracylic acid; 2-ethylhydracylic aciduria;

Details

Origin ID

C566487;

UMLS CUI

C1864912;

Automatic exact mappings (from CISMeF team)
- 2-Methylbutyryl glycinuria [HPO term]
Currated CISMeF NLP mapping
- 2 methylbutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
- 2-methylbutyric aciduria [ICD-11 More detail]
- 2-methylbutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- 2-methylbutyryl-coa dehydrogenase deficiency [OMIM Phenotype]
- Butyryl-CoA Dehydrogenase Deficiency [NCIt concept]
- Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- 2-Methylbutyryl-Coa dehydrogenase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2-Methylbutyryl glycinuria [HPO term]
- 2-methylbutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- 2-methylbutyryl-coa dehydrogenase deficiency [OMIM Phenotype]
- Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]

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