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Facioscapulohumeral Muscular Dystrophy 1 (MONDO:0008030)

Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.

Overview

Category

musculoskeletal system disorder

nervous system disorder

Ontology ID

MONDO:0008030

Internal:9356

Synonyms

FSHD

FSHD1

FSHD1A

Landouzy-Dejerine muscular dystrophy

facioscapulohumeral muscular dystrophy 1

facioscapulohumeral muscular dystrophy 1A

facioscapulohumeral muscular dystrophy type 1

muscular dystrophy, facioscapulohumeral, type 1A

Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included

facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles

facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included

facioscapulohumeral muscular dystrophy, infantile

muscular dystrophy, facioscapulohumeral, type 1

Mapped terms

DOID:0111192

GARD:0015087

MEDGEN:1727901

MESH:C536391

NCIT:C172704

OMIM:158900

UMLS:C5399970

Child terms

Unknown children.

Results

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