Polyglucosan body myopathy 2

Preferred Label : Polyglucosan body myopathy 2;

Symbol : PGBM2;

CISMeF acronym : PGBM2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glycogenin-1 gene (GYG1, 603942.0003);

Prefixed ID : #616199;

Détails

Origin ID

616199;

UMLS CUI

C4015452;

Currated CISMeF NLP mapping
- Polyglucosan body myopathy type 2 [ORDO Disease]
- Polyglucosan body myopathy type 2 (disorder) [SNOMED CT concept]
Genes related to phenotype
- Glycogenin 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Difficulty walking [HPO term]
- Distal muscle weakness [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Polyglucosan body myopathy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Polyglucosan body myopathy type 2 [ORDO Disease]
- Polyglucosan body myopathy type 2 (disorder) [SNOMED CT concept]

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

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