Hydroxyacyl glutathione hydrolase deficiency

Preferred Label : Hydroxyacyl glutathione hydrolase deficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Glyoxalase II deficiency;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Glyoxalase deficiency;

Prefixed ID : 614033;

Details

Origin ID

614033;

UMLS CUI

C3279657;

Currated CISMeF NLP mapping
- glyoxalase II deficiency [MeSH concept]
- glyoxalase II deficiency [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Glyoxalase deficiency [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- glyoxalase II deficiency [MeSH Supplementary Concept]
- glyoxalase II deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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