Isobutyryl-coa dehydrogenase deficiency

Preferred Label : Isobutyryl-coa dehydrogenase deficiency;

Symbol : IBDD;

CISMeF acronym : IBDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acyl-coa dehydrogenase family, member 8, deficiency of; Acad8 deficiency; Ibd deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acyl-CoA dehydrogenase family, member 8 gene (ACAD8, 604773.0001);

Prefixed ID : #611283;

Détails

Origin ID

611283;

UMLS CUI

C1969809;

Automatic exact mappings (from CISMeF team)
- Isobutyryl-CoA dehydrogenase deficiency [LOINC component]
Currated CISMeF NLP mapping
- Deficiency of isobutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]
- Isobutyric aciduria [ICD-11 More detail]
- Isobutyryl-CoA Dehydrogenase Deficiency [NCIt concept]
- Isobutyryl-CoA dehydrogenase deficiency [MeSH concept]
- Isobutyryl-CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- Isobutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- isobutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
Genes related to phenotype
- Acyl-coa dehydrogenase family, member 8 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased plasma carnitine [HPO term]
- Dilated cardiomyopathy [HPO term]
- Hypotonia [HPO term]
ORDO concept(s)
- Isobutyryl-CoA dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of isobutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]
- Isobutyric aciduria [ICD-11 More detail]
- Isobutyryl-CoA Dehydrogenase Deficiency [NCIt concept]
- Isobutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- Isobutyryl-CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- Isobutyryl-CoA dehydrogenase deficiency [MeSH concept]
- Isobutyryl-CoA dehydrogenase deficiency [LOINC component]
- isobutyryl CoA dehydrogenase deficiency [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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