6-phosphogluconolactonase deficiency

Preferred Label : 6-phosphogluconolactonase deficiency;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : 6pgl deficiency; Pgls deficiency;

Inheritance : Autosomal dominant;

Prefixed ID : %172150;

Détails

Origin ID

172150;

UMLS CUI

C1868355;

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

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

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