ZFIN Human Disease: autosomal dominant Emery-Dreifuss muscular dystrophy 2

OBO ID: DOID:0070247

Term Name:	autosomal dominant Emery-Dreifuss muscular dystrophy 2		Search Ontology:
Synonyms:	autosomal dominant limb-girdle muscular dystrophy type 1B EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy
Definition:	An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. (3)
References:	ICD10CM:G71.0 OMIM:181350 ORDO:264
Ontology:	Human Disease ( DOID:0070247 )

Relationships

is a type of:	autosomal dominant disease Emery-Dreifuss muscular dystrophy autosomal dominant disease Emery-Dreifuss muscular dystrophy Show first 5 Terms

OTHER autosomal dominant Emery-Dreifuss muscular dystrophy 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LMNA	lmna	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	181350

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None