The portal for rare diseases and orphan drugs

There is no disease so rare
that it does not deserve attention

• • Acid beta-glucosidase deficiency
  • Article for general public
    • FR (pdf,489ko)
• • Acquired myasthenia
  • Article for general public
    • FR (pdf,379ko)
• • Acral dystrophic epidermolysis bullosa
  • Article for general public
    • FR
• • Acromegaly
  • Article for general public
    • FR (pdf,771ko)
• • Acute brachial plexus neuritis
  • Article for general public
    • EN
• • Acute neuronopathic Gaucher disease
  • Article for general public
    • FR (pdf,489ko)
• • Adrenocortical carcinoma
  • Article for general public
    • FR
• • Adrenocorticotropic hormone secretion syndrome
  • Article for general public
    • FR (pdf,438ko)
• • Adult-onset dermatomyositis
  • Article for general public
    • FR (pdf,257ko)
• • Adult-onset focal torsion dystonia
  • Article for general public
    • FR (pdf,114ko)
• • Adult-onset idiopathic torsion dystonia
  • Article for general public
    • FR (pdf,114ko)
• • Adult Still's disease
  • Article for general public
    • FR (pdf,263ko)
• • Agramatic variant of PPA
  • Article for general public
    • FR (pdf,340ko)
• • Agramatic variant of primary progressive aphasia
  • Article for general public
    • FR (pdf,340ko)
• • Alpha-1,4-glucosidase acid deficiency
  • Article for general public
    • FR (pdf,423ko)
• • Alpha-1,4-glucosidase acid deficiency, adult onset
  • Article for general public
    • FR
• • Alpha-1,4-glucosidase acid deficiency, infantile onset
  • Article for general public
    • FR
• • Alpha-1,4-glucosidase acid deficiency, juvenile onset
  • Article for general public
    • FR
• • Alpha-L-iduronidase deficiency
  • Article for general public
    • FR (pdf,371ko)
• • Alpha-thalassemia
  • Article for general public
    • FR (pdf,469ko)
• • Alport deafness-nephropathy
  • Article for general public
    • FR (pdf,548ko)
• • Alport syndrome
  • Article for general public
    • FR (pdf,548ko)
• • ALS
  • Article for general public
    • FR (pdf,483ko)
• • Amyotrophic lateral sclerosis
  • Article for general public
    • FR (pdf,483ko)
• • Angelman syndrome
  • Article for general public
    • FR (pdf,222ko)
• • Angelman syndrome due to maternal 15q11q13 deletion
  • Article for general public
    • FR (pdf,222ko)
• • Angelman syndrome due to maternal monosomy 15q11q13
  • Article for general public
    • FR (pdf,222ko)
• • Angelman syndrome due to paternal uniparental disomy of chromosome 15
  • Article for general public
    • FR (pdf,222ko)
• • ARSB deficiency
  • Article for general public
    • FR (pdf,334ko)
• • Arylsulfatase B deficiency
  • Article for general public
    • FR (pdf,334ko)
• • ASB deficiency
  • Article for general public
    • FR (pdf,334ko)
• • Ataxia-telangiectasia
  • Article for general public
    • FR (pdf,159ko)
• • Autoimmune hemolytic anemia, warm type
  • Article for general public
    • FR (pdf,188ko)
• • Autoimmune myasthenia gravis
  • Article for general public
    • FR (pdf,379ko)
• • Autosomal dominant Alport syndrome
  • Article for general public
    • FR (pdf,548ko)
• • Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type
  • Article for general public
    • FR
• • Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
  • Article for general public
    • FR
• • Autosomal dominant dystrophic epidermolysis bullosa, Pasini type
  • Article for general public
    • FR
• • Autosomal dominant Emery-Dreifuss muscular dystrophy
  • Article for general public
    • FR
• • Autosomal dominant focal dystonia, DYT7 type
  • Article for general public
    • FR (pdf,114ko)
• • Autosomal dominant hereditary hemochromatosis
  • Article for general public
    • FR (pdf,229ko)
• • Autosomal recessive Alport syndrome
  • Article for general public
    • FR (pdf,548ko)
• • Autosomal recessive complex HSP
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive complex spastic paraplegia
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive complex SPG
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive complicated HSP
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive complicated spastic paraplegia
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive complicated SPG
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
  • Article for general public
    • FR
• • Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
  • Article for general public
    • FR
• • Autosomal recessive dystrophic epidermolysis bullosa, generalized other
  • Article for general public
    • FR
• • Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
  • Article for general public
    • FR
• • Autosomal recessive Emery-Dreifuss muscular dystrophy
  • Article for general public
    • FR
• • Autosomal recessive epidermolysis bullosa simplex
  • Article for general public
    • FR
• • Autosomal recessive pure HSP
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive pure spastic paraplegia
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive pure SPG
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive uncomplicated HSP
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive uncomplicated spastic paraplegia
  • Article for general public
    • FR (pdf,202ko)
• • Autosomal recessive uncomplicated SPG
  • Article for general public
    • FR (pdf,202ko)