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  Mim number
Name of disease
ICD identifier
ICD name
anatomic origin type of cells Nb of persons Bank Contact Last update Date  
  176270
PRADER-WILLI SYNDROME; PWS

muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
D76.2
Haemophagocytic syndrome, infection-associated
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
E03.9
Hypothyroidism, unspecified
muscle 6 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
E06.3
Autoimmune thyroiditis
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
E06.9
Thyroiditis, unspecified
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
E88.8
Other specified metabolic disorders
muscle 14 marija.meznaric@mf.unui-lj.si 2010-08-26  
  590060
TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK
E88.8
Other specified metabolic disorders
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
  603041
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
E88.8
Other specified metabolic disorders
muscle 3 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
F83
Mixed specific developmental disorders
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G09
Sequelae of inflammatory diseases of central nervous system
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
  253300
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
G12.0
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
muscle 2 marija.meznaric@mf.unui-lj.si 2010-08-26  
  253400
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
G12.1
Other inherited spinal muscular atrophy
muscle 3 marija.meznaric@mf.unui-lj.si 2010-08-26  
  313200
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
G12.1
Other inherited spinal muscular atrophy
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G12.2
Motor neuron disease
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G12.8
Other spinal muscular atrophies and related syndromes
muscle 6 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G12.9
Spinal muscular atrophy, unspecified
muscle 4 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G24.2
Idiopathic nonfamilial dystonia
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G24.8
Other dystonia
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G24.9
Dystonia, unspecified
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G25.3
Myoclonus
muscle 2 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G25.8
Other specified extrapyramidal and movement disorders
muscle 3 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G35
Multiple sclerosis
muscle 2 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G40.0
Localisation-related (focal) (partial) idiopathic epilepsy and epileptic syndromes with seizures of
muscle 1 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G40.3
Generalised idiopathic epilepsy and epileptic syndromes
muscle 2 marija.meznaric@mf.unui-lj.si 2010-08-26  
 
G40.5
Special epileptic syndromes
muscle 2 marija.meznaric@mf.unui-lj.si 2010-08-26  

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Last updated on 2010/08/26