D-2-hydroxyglutaric aciduria 2

Preferred Label : D-2-hydroxyglutaric aciduria 2;

Symbol : D2HGA2;

CISMeF acronym : D2HGA2;

Type : Phenotype, molecular basis known;

Prefixed ID : #613657;

Details

Origin ID

613657;

UMLS CUI

C3150909;

Currated CISMeF NLP mapping
- D 2 hydroxyglutaric aciduria type 2 [Disease (Nov.)]
- D-2-hydroxyglutaric aciduria 2 [DO Concept]
DO Cross reference
- D-2-hydroxyglutaric aciduria 2 [DO Concept]
False automatic mappings
- IDH2 wt Allele [NCIt concept]
Genes related to phenotype
- Isocitrate dehydrogenase 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- D-2-hydroxyglutaric acidemia [HPO term]
- D-2-hydroxyglutaric aciduria [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- D-2-hydroxyglutaric aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- D 2 hydroxyglutaric aciduria type 2 [Disease (Nov.)]
Validated automatic mappings to NTBT
- D-2-hydroxyglutaric aciduria [ORDO Disease]

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