Glycogen storage disease XV

Preferred Label : Glycogen storage disease XV;

Symbol : GSD15;

CISMeF acronym : GSD XV; GSD15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gsd XV; Glycogenin deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by the glycogenin 1 gene (GYG1, 603942.0001);

Prefixed ID : #613507;

Détails

Origin ID

613507;

UMLS CUI

C3150754;

Currated CISMeF NLP mapping
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency [ORDO Disease]
- glycogen storage disease XV [DO Concept]
DO Cross reference
- glycogen storage disease XV [DO Concept]
Genes related to phenotype
- Glycogenin 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Muscle weakness [HPO term]
- Right bundle branch block [HPO term]
- Ventricular arrhythmia [HPO term]
ORDO concept(s)
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- glycogen storage disease XV [DO Concept]

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

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