Glutaric aciduria III

Preferred Label : Glutaric aciduria III;

Symbol : GA3;

CISMeF acronym : GA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ga III; Glutaryl-coa oxidase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 7 open reading frame 10 gene (C7orf10, 609187.0001);

Laboratory abnormalities : Glutaric aciduria; Normal urinary glutarylcarnitine level; Normal urinary 3-hydroxyglutarate level; Normal glutarylglycine level;

Prefixed ID : #231690;

Détails

Origin ID

231690;

UMLS CUI

C0342873;

Automatic exact mappings (from CISMeF team)
- multiple acyl coenzyme a dehydrogenase deficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- Glutaric acidemia type 3 [ORDO Disease]
- Glutaric aciduria type 3 [ICD-11 More detail]
- Glutaryl-coenzyme A oxidase deficiency (disorder) [SNOMED CT concept]
- glutaric acidemia type 3 [DO Concept]
- glutaric aciduria III [MeSH concept]
- glutaric aciduria III [MeSH Supplementary Concept]
- glutaric aciduria type 3 [Disease (Nov.)]
Genes related to phenotype
- Succinyl-coa:glutarate-coa transferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Glutaric aciduria [HPO term]
- Goiter [HPO term]
- Hypertension [HPO term]
- Hyperthyroidism [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Glutaric acidemia type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutaric acidemia type 3 [ORDO Disease]
- Glutaric aciduria type 3 [ICD-11 More detail]
- Glutaryl-coenzyme A oxidase deficiency (disorder) [SNOMED CT concept]
- glutaric aciduria III [MeSH Supplementary Concept]
- glutaric aciduria III [MeSH concept]
- glutaric aciduria type 3 [Disease (Nov.)]

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

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