|  Help  |  About  |  Contact Us

DO Term : facioscapulohumeral muscular dystrophy 3 [DOID:0060917] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.
  • synonyms:
  • FSHD3,
  • 619477,
  • facioscapulohumeral muscular dystrophy type 3,
  • OMIM:619477
Quick Links:
 
Quick Links:
 

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