Facioscapulohumeral muscular dystrophy 2, digenic

Preferred Label : Facioscapulohumeral muscular dystrophy 2, digenic;

Symbol : FSHD2;

CISMeF acronym : FSHD1B; FSHD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fshd2, digenic; Muscular dystrophy, facioscapulohumeral, type 1b; Muscular dystrophy, facioscapulohumeral, type 2; FSHD1B;

Description : Facioscapulohumeral muscular dystrophy is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by Lemmers et al., 2012).;

Prefixed ID : #158901;

Details

Origin ID

158901;

UMLS CUI

C1834671;

Automatic exact mappings (from CISMeF team)
- structural maintenance of chromosomes flexible hinge domain containing 1 [ORDO Gene]
- structural maintenance of chromosomes flexible hinge domain containing 1 [HGNC gene]
Broader ORDO disease(s)
- Facioscapulohumeral dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Facioscapulohumeral Muscular Dystrophy 2 [NCIt concept]
- facioscapulohumeral muscular dystrophy 1B [MeSH Supplementary Concept]
- facioscapulohumeral muscular dystrophy 2 [DO Concept]
DO Cross reference
- facioscapulohumeral muscular dystrophy 2 [DO Concept]
Genes related to phenotype
- Structural maintenance of chromosomes flexible hinge domain-containing protein 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Beevor's sign [HPO term]
- Digenic inheritance [HPO term]
- Facial palsy [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hearing impairment [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Scapular winging [HPO term]
- Scapulohumeral muscular dystrophy [HPO term]
ORDO concept(s)
- Facioscapulohumeral dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Facioscapulohumeral Muscular Dystrophy 2 [NCIt concept]
- facioscapulohumeral muscular dystrophy 1B [MeSH Supplementary Concept]
- facioscapulohumeral muscular dystrophy 1B [MeSH concept]
Validated automatic mappings to NTBT
- Facioscapulohumeral dystrophy [ORDO Disease]

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