Table 1 Rare diseases network and diseases selected due the number of included patients
Rare disease | Rare disease French network | Type of diseases |
|---|---|---|
Prader Willi syndrome | AnDDI-Rares | Rare diseases with somatic and cognitive developmental abnormalities |
Di George syndrome | ||
Friedreich ataxia | BRAIN-TEAM | Rare diseases with motor or cognitive expression of the central nervous system |
Fallot tetralogy | CARDIOGEN | Hereditary cardiac diseases |
Hypertrophic cardiomyopathy | ||
Dilated cardiomyopathy | ||
Bourneville tuberous sclerosis | Defiscience | Rare diseases of brain development and intellectual disability |
WEST syndrome | ||
Polymicrogyria | ||
Rett Sydrome | ||
X fragile syndrome | ||
Alagille syndrome | FILFOIE | Rare liver diseases |
Sclerosing cholangitis | ||
Budd Chiari syndrome | ||
Spinal amyotrophy | FILNEMUS | Rare neuromuscular diseases |
Ectodermal dysplasia | FIMARAD | Rare dermatological diseases |
Bullous autoimmune dermatoses | ||
Epidermolysis bullosa | ||
Neurofibromatosis | ||
Hirschsprung disease | FIMATHO | Rare abdominal-thoracic diseases |
Oesophageal atresia | ||
Short Bowel Syndrome | ||
Thyroid ectopia | FIRENDO | Rare endocrine and gynaecological diseases |
Turner syndrome | ||
Cushing's disease | ||
PFPA syndrome | Fai2r | Rare autoimmune and auto-inflammatory diseases |
Congenital hyperinsulinism | G2M | Rare hereditary metabolic diseases |
Phenylketonuria | ||
Willebrand disease | MHEMO | Rare constitutional haemorrhagic diseases |
Cystic fibrosis | Muco CFTR | Cystic fibrosis |
Alport syndrome | ORKID | Rare renal diseases |
Multicystic dysplastic kidney | ||
Haemolytic uremic syndrome | ||
Ehlers Danlos syndrome | OSCAR | Rare bone diseases |
Osteogenesis imperfecta | ||
Bardet Biedl syndrome | SENSGENE | Rare sensory diseases |
Pierre Robin syndrome | TETECOU | Rare diseases of the head, neck and teeth |
Moebius syndrome | ||
Palate and cleft lip |