2-Hydroxyglutaric Aciduria

Preferred Label : 2-Hydroxyglutaric Aciduria;

NCIt definition : A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified based on the steroisomeric composition of the elevated alpha-hydroxyglutaric acid metabolites. Additionally, the disease may be categorized by the genetic mutation that is causative. Genes associated with 2-hydroxyglutaric aciduria are L2HGDH, D2HGDH, IDH2, and/or SLC25A1. Generally, there is nervous system involvement, but the clinical manifestations are variable and are dependent on the specific type of defect present.;

Détails

Origin ID

C128187;

UMLS CUI

C2746066;

Automatic exact mappings (from CISMeF team)
- 2-Hydroxyglutaric aciduria [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- 2-Hydroxyglutaricaciduria [MeSH concept]
- 2-Hydroxyglutaricaciduria [MeSH Supplementary Concept]
- 2-hydroxyglutarate aciduria [HPO term]
- 2-hydroxyglutaric aciduria [ICD-11 More detail]
- 2-hydroxyglutaric aciduria [DO Concept]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- Combined D-2- and L-2-hydroxyglutaric aciduria [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2-Hydroxyglutaric aciduria [MedDRA Preferred Term]
- 2-Hydroxyglutaricaciduria [MeSH Supplementary Concept]
- 2-Hydroxyglutaricaciduria [MeSH concept]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria [DO Concept]
- 2-hydroxyglutaric aciduria [ICD-11 More detail]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- Combined D-2- and L-2-hydroxyglutaric aciduria [OMIM Phenotype]
- Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- D-2-hydroxyglutaric aciduria [ORDO Disease]
Validated automatic mappings to BTNT
- Combined D-2- and L-2-hydroxyglutaric aciduria [OMIM Phenotype]
- D-2-hydroxyglutaric aciduria [ICD-11 More detail]
- D-2-hydroxyglutaric aciduria [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
related_to_genetic_biomarker
- D2HGDH Gene [NCIt concept]
- IDH2 Gene [NCIt concept]

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

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