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DO Term : facioscapulohumeral muscular dystrophy 1 [DOID:0111192] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.

synonyms:
FSHD1,
facioscapulohumeral muscular dystrophy type 1,
OMIM:158900,
158900,
facioscapulohumeral muscular dystrophy type 1A

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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