X-linked Emery-Dreifuss muscular dystrophy 6

Summary

DOID:0070251 - X-linked Emery-Dreifuss muscular dystrophy 6

Disease Ontology Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.

Synonyms: EDMD6, Emery-Dreifuss muscular dystrophy 6, X-linked, myopathy, X-linked, with postural muscle atrophy, XMPMA

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fhl1

MIM:

MIM:300696 - MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA

MIM:300696 - MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Emery-Dreifuss muscular dystrophy (is_a), X-linked recessive disease (is_a)