gamma aminobutyric acid transaminase deficiency

Preferred Label : gamma aminobutyric acid transaminase deficiency;

MeSH synonym : GABA transaminase deficiency; gamma aminobutyrate transaminase deficiency; 4 alpha aminobutyrate transaminase deficiency; Gaba-Transaminase deficiency;

Details

Origin ID

C535407;

UMLS CUI

C0342708;

Currated CISMeF NLP mapping
- GABA aminotransferase deficiency [DO Concept]
- Gaba-transaminase deficiency [OMIM Phenotype]
- Gamma aminobutyric acid transaminase deficiency [ICD-11 More detail]
- Gamma-aminobutyric acid transaminase deficiency [ORDO Disease]
- Gamma-aminobutyric acid transaminase deficiency (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- 4-Aminobutyrate transaminase [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Gamma-aminobutyric acid transaminase deficiency [ORDO Disease]
Record concept(s)
- Gamma aminobutyric acid transaminase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gaba-transaminase deficiency [OMIM Phenotype]
- Gamma aminobutyric acid transaminase deficiency [ICD-11 More detail]
- Gamma-aminobutyric acid transaminase deficiency [ORDO Disease]
- Gamma-aminobutyric acid transaminase deficiency (disorder) [SNOMED CT concept]

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