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Metadata
ID DOID:0070247
Name autosomal dominant Emery-Dreifuss muscular dystrophy 2
Definition An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
https://www.ncbi.nlm.nih.gov/pubmed/10080180, https://www.ncbi.nlm.nih.gov/pubmed/10814726, https://www.ncbi.nlm.nih.gov/pubmed/?term=30055862
Xrefs

ICD10CM:G71.0

OMIM:181350

ORDO:264

Subsets

DO_rare_slim

Synonyms

autosomal dominant limb-girdle muscular dystrophy type 1B [EXACT]

EDMD2 [EXACT]

EMD2 [EXACT]

Emery-Dreifuss muscular dystrophy 2, autosomal dominant [EXACT]

Emery-Dreifuss muscular dystrophy, autosomal dominant [EXACT]

Hauptmann-Thannhauser muscular dystrophy [EXACT]

muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant [EXACT]

scapuloilioperoneal atrophy with cardiopathy [EXACT]

Parent Relationships

is_a Emery-Dreifuss muscular dystrophy

is_a autosomal dominant disease

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