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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  
 
D76.2
Haemophagocytic syndrome, infection-associated
158041
Acquired hemophagocytic lymphohistiocytosis; Reactive hemophagocytic syndrome
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
D86.2
Sarcoidosis of lung with sarcoidosis of lymph nodes
797
Sarcoidosis
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
E03.9
Hypothyroidism, unspecified
177107
Syndromic hypothyroidism
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
E06.3
Autoimmune thyroiditis
855
Hashimoto hypothyroidism; Hashimoto thyroiditis
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
E06.9
Thyroiditis, unspecified

marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
E88.8
Other specified metabolic disorders
254837
Unspecified mitochondrial disorder
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
  590060
TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK
E88.8
Other specified metabolic disorders
1349
tRNA-LYS-related cardiomyopathy - hearing loss
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
  603041
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
E88.8
Other specified metabolic disorders
298
Myoneurogastrointestinal encephalopathy syndrome
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
  253300
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
G12.0
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
83330
Spinal muscular atrophy, type I
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
  253400
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
G12.1
Other inherited spinal muscular atrophy
83419
Spinal muscular atrophy, type III
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
  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)
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G12.2
Motor neuron disease
803
Amyotrophic lateral sclerosis
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G12.8
Other spinal muscular atrophies and related syndromes
206713
Distal spinal muscular atrophy
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G12.9
Spinal muscular atrophy, unspecified
98506
Acquired anterior horn cell disease
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G24.2
Idiopathic nonfamilial dystonia

marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G24.8
Other dystonia
93962
Cervical dystonia
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G25.3
Myoclonus
254837
Unspecified mitochondrial disorder
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G31.8
Other specified degenerative diseases of nervous system
506
Leigh disease
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G35
Multiple sclerosis
802
Multiple sclerosis
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G40.0
Localisation-related (focal) (partial) idiopathic epilepsy and epileptic syndromes with seizures of
98259
Childhood-onset epilepsy syndrome
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G40.3
Generalised idiopathic epilepsy and epileptic syndromes
98258
Infantile epilepsy syndrome
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G40.4
Other generalised epilepsy and epileptic syndromes
3451
Infantile spasms, West syndrome
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G40.5
Special epileptic syndromes
163681
Cortical dysplasia - focal epilepsy syndrome
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G40.5
Special epileptic syndromes
166302
Benign partial epilepsy with secondarily generalized seizures in infancy
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  
 
G40.5
Special epileptic syndromes
254837
Unspecified mitochondrial disorder
marija.meznaric@mf.uni-lj.si muscle 2014-03-18  

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Last updated on 2014/03/18