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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  
  N/A
N/A		 D76.2
Haemophagocytic syndrome, infection-associated 		158041
Acquired hemophagocytic lymphohistiocytosis; Reactive hemophagocytic syndrome 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 D86.2
Sarcoidosis of lung with sarcoidosis of lymph nodes 		797
Sarcoidosis 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 E03.9
Hypothyroidism, unspecified 		N/A
N/A 		muscle N/A 6 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 E06.3
Autoimmune thyroiditis 		855
Hashimoto hypothyroidism; Hashimoto thyroiditis 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 E88.8
Other specified metabolic disorders 		254837
Unspecified mitochondrial disorder 		muscle N/A 10 marija.meznaric@mf.uni-lj.si 2012-05-21  
  590060
TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK		 E88.8
Other specified metabolic disorders 		1349
tRNA-LYS-related cardiomyopathy - hearing loss 		muscle N/A 2 marija.meznaric@mf.uni-lj.si 2012-05-21  
  603041
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE		 E88.8
Other specified metabolic disorders 		298
Myoneurogastrointestinal encephalopathy syndrome 		muscle N/A 2 marija.meznaric@mf.uni-lj.si 2012-05-21  
  253300
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1		 G12.0
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] 		83330
Spinal muscular atrophy, type I 		muscle N/A 2 marija.meznaric@mf.uni-lj.si 2012-05-21  
  253400
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3		 G12.1
Other inherited spinal muscular atrophy 		83419
Spinal muscular atrophy, type III 		muscle N/A 4 marija.meznaric@mf.uni-lj.si 2012-05-21  
  313200
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1		 G12.1
Other inherited spinal muscular atrophy 		481
Spinal and bulbar muscular atrophy, X-linked 1 (Kennedy-syndrome) 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G12.2
Motor neuron disease 		803
Amyotrophic lateral sclerosis 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G12.8
Other spinal muscular atrophies and related syndromes 		206713
Distal spinal muscular atrophy 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G20
Parkinson's disease 		1320
Camptocormia 		muscle N/A 2 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G24.2
Idiopathic nonfamilial dystonia 		N/A
N/A 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G24.8
Other dystonia 		93962
Cervical dystonia 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G25.3
Myoclonus 		254837
Unspecified mitochondrial disorder 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G35
Multiple sclerosis 		802
Multiple sclerosis 		muscle N/A 2 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G40.3
Generalised idiopathic epilepsy and epileptic syndromes 		98258
Infantile epilepsy syndrome 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G40.4
Other generalised epilepsy and epileptic syndromes 		3451
Infantile spasms, West syndrome 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G40.5
Special epileptic syndromes 		163681
Cortical dysplasia - focal epilepsy syndrome 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G40.5
Special epileptic syndromes 		166302
Benign partial epilepsy with secondarily generalized seizures in infancy 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  254800
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG		 G40.5
Special epileptic syndromes 		308
Unverricht-Lundborg disease 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G58.7
Mononeuritis multiplex 		N/A
N/A 		muscle N/A 2 marija.meznaric@mf.uni-lj.si 2012-05-21  
  118220
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A		 G60
Hereditary and idiopathic neuropathy 		101081
CMT 1A 		muscle N/A 1 marija.meznaric@mf.uni-lj.si 2012-05-21  
  N/A
N/A		 G63.2
Diabetic polyneuropathy 		N/A
N/A 		muscle N/A 2 marija.meznaric@mf.uni-lj.si 2012-05-21  

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Last updated on 2011/05/12