Facioscapulohumeral muscular dystrophy 3, digenic

Preferred Label : Facioscapulohumeral muscular dystrophy 3, digenic;

Symbol : FSHD3;

Type : Phenotype, molecular basis known;

Prefixed ID : #619477;

Details

Origin ID

619477;

UMLS CUI

C5561959;

Genes related to phenotype
- Ligand-dependent nuclear receptor-interacting factor 1 [OMIM gene]
HPO term(s)
- Angulated muscle fibers [HPO term]
- Aspiration pneumonia [HPO term]
- Difficulty climbing stairs [HPO term]
- Digenic inheritance [HPO term]
- Fatigue [HPO term]
- Middle age onset [HPO term]
- Neck muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Scapular winging [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Weakness of facial musculature [HPO term]
ORDO concept(s)
- Facioscapulohumeral dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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