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  Mim number
NAME OF DISEASE
ICD identifier
ICD name
ORPHA number
ORPHA name
anatomic origin type of cells Nb of persons Bank Contact Last update Date  
  300376
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
G71.0
Muscular dystrophy
ORPHA98895
Muscular dystrophy, Becker type
1 Urine diana.johnson@ucl.ac.uk 2014-07-14  
  310200
Muscular Dystrophy Duchenne type, DMD
G71.0
Muscular dystrophy
98896
Duchenne muscular dystrophy
263 elena.pegoraro@unipd.it 2014-07-14  
  300376
Muscular Dystrophy Becker type, BMD
G71.0
Muscular dystrophy
98895
Becker muscular dystrophy
229 elena.pegoraro@unipd.it 2014-07-14  
  310200
Duchenne/Becker dystrophy
G71.0
Muscular dystrophy
262
Duchenne and Becker muscular dystrophy
9 elena.pegoraro@unipd.it 2014-07-14  
  310200
Muscular Dystrophy Duchenne type, DMD, carrier
G71.0
Muscular dystrophy
206546
Duchenne muscular dystrophy carrier
64 elena.pegoraro@unipd.it 2014-07-14  
  300376
Muscular Dystrophy Becker type, BMD carrier
G71.0
Muscular dystrophy
206546
Becker muscular dystrophy carrier
6 elena.pegoraro@unipd.it 2014-07-14  
  310300
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
G71.0
Muscular dystrophy
98863
X-linked Emery-Dreifuss muscular dystrophy
4 elena.pegoraro@unipd.it 2014-07-14  
  253700
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
G71.0
Muscular dystrophy
353
Autosomal recessive limb-girdle muscular dystrophy type 2C
13 elena.pegoraro@unipd.it 2014-07-14  
  608099
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D
G71.0
Muscular dystrophy
62
Autosomal recessive limb-girdle muscular dystrophy type 2D
34 elena.pegoraro@unipd.it 2014-07-14  
  604286
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
G71.0
Muscular dystrophy
119
Autosomal recessive limb-girdle muscular dystrophy type 2E
9 elena.pegoraro@unipd.it 2014-07-14  
  601287
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
G71.0
Muscular dystrophy
219
Autosomal recessive limb-girdle muscular dystrophy type 2F
1 elena.pegoraro@unipd.it 2014-07-14  
  253600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
G71.0
Muscular dystrophy
267
Autosomal recessive limb-girdle muscular dystrophy type 2A
102 elena.pegoraro@unipd.it 2014-07-14  
  253601
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
G71.0
Muscular dystrophy
268
Autosomal recessive limb-girdle muscular dystrophy type 2B
32 elena.pegoraro@unipd.it 2014-07-14  
  607801
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
G71.0
Muscular dystrophy
265
Autosomal dominant limb-girdle muscular dystrophy type 1C
13 elena.pegoraro@unipd.it 2014-07-14  
 
MUSCULAR DYSTROPHY, LIMB-GIRDLE
G71.0
Muscular dystrophy
263
Limb-girdle muscular dystrophy
254 elena.pegoraro@unipd.it 2014-07-14  
  607155
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I
G71.0
Muscular dystrophy
34515
Autosomal recessive limb-girdle muscular dystrophy type 2I
17 elena.pegoraro@unipd.it 2014-07-14  
  159001
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
G71.0
Muscular dystrophy
264
Limb-girdle muscular dystrophy due to lamin A/C deficiency
11 elena.pegoraro@unipd.it 2014-07-14  
  607855
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
G71.0
Muscular dystrophy
258
Congenital muscular dystrophy type 1A (Congenital muscular dystrophy due to laminin alpha2 deficiency)
22 elena.pegoraro@unipd.it 2014-07-14  
 
Congenital muscular dystrophy
G71.0
Muscular dystrophy
97242
Congenital muscular dystrophy
48 elena.pegoraro@unipd.it 2014-07-14  
  613204
MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
G71.0
Muscular dystrophy
34520
Congenital muscular dystrophy with integrin deficiency
3 elena.pegoraro@unipd.it 2014-07-14  
  158900
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
G71.0
Muscular dystrophy
269
Facioscapulohumeral muscular dystrophy
71 elena.pegoraro@unipd.it 2014-07-14  
 
Distal myopathy
G71.0
Muscular dystrophy
599
Distal myopathy
11 elena.pegoraro@unipd.it 2014-07-14  
  160900
Myotonic dystrophy 1; DM1
G71.11
Myotonic dystrophy
273
Myotonic dystrophy type 1
134 elena.pegoraro@unipd.it 2014-07-14  
  602668
MYOTONIC DYSTROPHY 2; DM2
G71.11
Myotonic muscular dystrophy
606
Myotonic dystrophy type 2
18 elena.pegoraro@unipd.it 2014-07-14  
  160800
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
G71.12
Myotonia congenita
206973
Myotonia congenita
18 elena.pegoraro@unipd.it 2014-07-14  

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Last updated on 2014/07/14