Facioscapulohumeral muscular dystrophy 4, digenic

Preferred Label : Facioscapulohumeral muscular dystrophy 4, digenic;

Symbol : FSHD4;

Type : Phenotype, molecular basis known;

Prefixed ID : #619478;

Détails

Origin ID

619478;

UMLS CUI

C5561960;

Genes related to phenotype
- Dna methyltransferase 3b [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Digenic inheritance [HPO term]
- Upper limb 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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