Tricarboxylic acid cycle, defect of

Preferred Label : Tricarboxylic acid cycle, defect of;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %275370;

Details

Origin ID

275370;

UMLS CUI

C1848746;

Currated CISMeF NLP mapping
- Disorders of the citric acid cycle [ICD-11 Subcategory]
- Tricarboxylic acid cycle disorder [ORDO Disease]
- tricarboxylic acid cycle, defect of [MeSH concept]
- tricarboxylic acid cycle, defect of [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the nervous system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Persistent lactic acidosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorders of the citric acid cycle [ICD-11 Subcategory]
- Tricarboxylic acid cycle disorder [ORDO Disease]
- tricarboxylic acid cycle, defect of [MeSH Supplementary Concept]
- tricarboxylic acid cycle, defect of [MeSH concept]

Keyword's position in hierarchy(ies) :

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