Glycogen storage disease 0, muscle

Preferred Label : Glycogen storage disease 0, muscle;

Symbol : GSD0B;

CISMeF acronym : GSD0B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gsd 0b; Muscle glycogen storage disease 0; Muscle glycogen synthase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in glycogen synthase 1 gene (GYS1, 138570.0001);

Prefixed ID : #611556;

Détails

Origin ID

611556;

UMLS CUI

C1969054;

Currated CISMeF NLP mapping
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle or heart glycogen synthase deficiency [ICD-11 More detail]
- Muscle and heart glycogen synthase deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease 0, muscle [MeSH concept]
- glycogen storage disease 0, muscle [MeSH Supplementary Concept]
- glycogen storage disease type 0 muscle type [Disease (Nov.)]
Genes related to phenotype
- Glycogen synthase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cardiomyopathy [HPO term]
- Decreased muscle glycogen content [HPO term]
- Exercise intolerance [HPO term]
- Left atrial enlargement [HPO term]
- Left ventricular hypertrophy [HPO term]
- Stroke [HPO term]
ORDO concept(s)
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle or heart glycogen synthase deficiency [ICD-11 More detail]
- glycogen storage disease 0, muscle [MeSH Supplementary Concept]
- glycogen storage disease 0, muscle [MeSH concept]
- glycogen storage disease type 0 muscle type [Disease (Nov.)]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients