DOID:0070254
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congenital disorder of glycosylation type IIb
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Aliases:
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CDG IIb
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CDG2B
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CDGIIb
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glucosidase I deficiency
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Caenorhabditis elegans
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DOID:0070254
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congenital disorder of glycosylation type IIb
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Aliases:
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CDG IIb
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CDG2B
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CDGIIb
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glucosidase I deficiency
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Rattus norvegicus (Norway rat)
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DOID:0070254
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congenital disorder of glycosylation type IIb
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Aliases:
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CDG IIb
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CDG2B
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CDGIIb
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glucosidase I deficiency
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Saccharomyces cerevisiae S288C
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DOID:0070253
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congenital disorder of glycosylation type IIa
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Aliases:
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Alkuraya syndrome
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CDG IIa
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CDG2A
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CDGIIa
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CDGS2
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carbohydrate-deficient glycoprotein syndrome, type II
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congenital disorder of glycosylation, type IIa
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mental retardation, growth retardation, prominent columella, and open mouth
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Drosophila melanogaster (fruit fly)
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DOID:0070253
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congenital disorder of glycosylation type IIa
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Aliases:
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Alkuraya syndrome
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CDG IIa
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CDG2A
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CDGIIa
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CDGS2
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carbohydrate-deficient glycoprotein syndrome, type II
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congenital disorder of glycosylation, type IIa
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mental retardation, growth retardation, prominent columella, and open mouth
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Rattus norvegicus (Norway rat)
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DOID:0070253
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congenital disorder of glycosylation type IIa
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Aliases:
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Alkuraya syndrome
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CDG IIa
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CDG2A
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CDGIIa
-
CDGS2
-
carbohydrate-deficient glycoprotein syndrome, type II
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congenital disorder of glycosylation, type IIa
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mental retardation, growth retardation, prominent columella, and open mouth
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Xenopus laevis (African clawed frog)
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DOID:0070253
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congenital disorder of glycosylation type IIa
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Aliases:
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Alkuraya syndrome
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CDG IIa
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CDG2A
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CDGIIa
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CDGS2
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carbohydrate-deficient glycoprotein syndrome, type II
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congenital disorder of glycosylation, type IIa
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mental retardation, growth retardation, prominent columella, and open mouth
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Danio rerio (zebrafish)
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DOID:0070253
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congenital disorder of glycosylation type IIa
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Aliases:
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Alkuraya syndrome
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CDG IIa
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CDG2A
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CDGIIa
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CDGS2
-
carbohydrate-deficient glycoprotein syndrome, type II
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congenital disorder of glycosylation, type IIa
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mental retardation, growth retardation, prominent columella, and open mouth
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Caenorhabditis elegans
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DOID:0070253
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congenital disorder of glycosylation type IIa
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Aliases:
-
Alkuraya syndrome
-
CDG IIa
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CDG2A
-
CDGIIa
-
CDGS2
-
carbohydrate-deficient glycoprotein syndrome, type II
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congenital disorder of glycosylation, type IIa
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mental retardation, growth retardation, prominent columella, and open mouth
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Xenopus tropicalis (tropical clawed frog)
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DOID:0070253
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congenital disorder of glycosylation type IIa
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Aliases:
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Alkuraya syndrome
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CDG IIa
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CDG2A
-
CDGIIa
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CDGS2
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carbohydrate-deficient glycoprotein syndrome, type II
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congenital disorder of glycosylation, type IIa
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mental retardation, growth retardation, prominent columella, and open mouth
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Mus musculus (house mouse)
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DOID:0070252
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autosomal dominant Emery-Dreifuss muscular dystrophy 7
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Aliases:
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EDMD7
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Emery-Dreifuss muscular dystrophy 7, autosomal dominant
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Homo sapiens (human)
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DOID:0070251
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X-linked Emery-Dreifuss muscular dystrophy 6
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Aliases:
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EDMD6
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Emery-Dreifuss muscular dystrophy 6, X-linked
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XMPMA
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myopathy, X-linked, with postural muscle atrophy
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Homo sapiens (human)
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DOID:0070250
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autosomal dominant Emery-Dreifuss muscular dystrophy 5
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Aliases:
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EDMD5
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Emery-Dreifuss muscular dystrophy 5, autosomal dominant
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Mus musculus (house mouse)
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DOID:0070250
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autosomal dominant Emery-Dreifuss muscular dystrophy 5
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Aliases:
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EDMD5
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Emery-Dreifuss muscular dystrophy 5, autosomal dominant
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Drosophila melanogaster (fruit fly)
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DOID:0070250
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autosomal dominant Emery-Dreifuss muscular dystrophy 5
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Aliases:
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EDMD5
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Emery-Dreifuss muscular dystrophy 5, autosomal dominant
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Homo sapiens (human)
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DOID:0070249
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autosomal dominant Emery-Dreifuss muscular dystrophy 4
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Aliases:
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EDMD4
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Emery-Dreifuss muscular dystrophy 4 with variable features
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Emery-Dreifuss muscular dystrophy 4, autosomal dominant
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Mus musculus (house mouse)
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DOID:0070249
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autosomal dominant Emery-Dreifuss muscular dystrophy 4
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Aliases:
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EDMD4
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Emery-Dreifuss muscular dystrophy 4 with variable features
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Emery-Dreifuss muscular dystrophy 4, autosomal dominant
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Drosophila melanogaster (fruit fly)
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DOID:0070249
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autosomal dominant Emery-Dreifuss muscular dystrophy 4
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Aliases:
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EDMD4
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Emery-Dreifuss muscular dystrophy 4 with variable features
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Emery-Dreifuss muscular dystrophy 4, autosomal dominant
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Homo sapiens (human)
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DOID:0070248
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autosomal recessive Emery-Dreifuss muscular dystrophy 3
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Aliases:
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EDMD3
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Emery-Dreifuss muscular dystrophy 3, autosomal recessive
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Homo sapiens (human)
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DOID:0070248
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autosomal recessive Emery-Dreifuss muscular dystrophy 3
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Aliases:
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EDMD3
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Emery-Dreifuss muscular dystrophy 3, autosomal recessive
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Rattus norvegicus (Norway rat)
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DOID:0070248
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autosomal recessive Emery-Dreifuss muscular dystrophy 3
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Aliases:
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EDMD3
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Emery-Dreifuss muscular dystrophy 3, autosomal recessive
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Mus musculus (house mouse)
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DOID:0070247
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autosomal dominant Emery-Dreifuss muscular dystrophy 2
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Aliases:
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EDMD2
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EMD2
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Emery-Dreifuss muscular dystrophy 2, autosomal dominant
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Emery-Dreifuss muscular dystrophy, autosomal dominant
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Hauptmann-Thannhauser muscular dystrophy
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autosomal dominant limb-girdle muscular dystrophy type 1B
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muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
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scapuloilioperoneal atrophy with cardiopathy
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Homo sapiens (human)
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DOID:0070247
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autosomal dominant Emery-Dreifuss muscular dystrophy 2
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Aliases:
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EDMD2
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EMD2
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Emery-Dreifuss muscular dystrophy 2, autosomal dominant
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Emery-Dreifuss muscular dystrophy, autosomal dominant
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Hauptmann-Thannhauser muscular dystrophy
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autosomal dominant limb-girdle muscular dystrophy type 1B
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muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
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scapuloilioperoneal atrophy with cardiopathy
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Mus musculus (house mouse)
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DOID:0070247
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autosomal dominant Emery-Dreifuss muscular dystrophy 2
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Aliases:
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EDMD2
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EMD2
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Emery-Dreifuss muscular dystrophy 2, autosomal dominant
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Emery-Dreifuss muscular dystrophy, autosomal dominant
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Hauptmann-Thannhauser muscular dystrophy
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autosomal dominant limb-girdle muscular dystrophy type 1B
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muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
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scapuloilioperoneal atrophy with cardiopathy
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Rattus norvegicus (Norway rat)
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DOID:0070246
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X-linked Emery-Dreifuss muscular dystrophy 1
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Aliases:
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EDMD1
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EMD1
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Emery-Dreifuss muscular dystrophy 1, X-linked
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humeroperoneal neuromuscular disease
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muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
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scapuloperoneal syndrome, X-linked
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Mus musculus (house mouse)
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