Adenosine triphosphate, elevated, of erythrocytes

Preferred Label : Adenosine triphosphate, elevated, of erythrocytes;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pyruvate kinase hyperactivity;

Inheritance : Autosomal dominant;

Prefixed ID : #102900;

Détails

Origin ID

102900;

UMLS CUI

C1863224;

Currated CISMeF NLP mapping
- adenosine triphosphate, elevated, of erythrocytes [MeSH concept]
- adenosine triphosphate, elevated, of erythrocytes [MeSH Supplementary Concept]
Genes related to phenotype
- Pyruvate kinase, liver and red blood cell [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Polycythemia [HPO term]
- Reduced erythrocyte 2,3-diphosphoglycerate concentration [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- adenosine triphosphate, elevated, of erythrocytes [MeSH Supplementary Concept]
- adenosine triphosphate, elevated, of erythrocytes [MeSH concept]

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

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