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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