Orphanet

Rare Disorder Name Rare Disease Categories IMPC Status Number of Related Mouse Genes No of Stock Hits Number of SNV hits
X-linked lymphoproliferative disease
  • Rare immune disease
  • Rare oncologic disease
1 0 0
Severe hemophilia A
  • Rare hematologic disease
1 0 0
Moderately severe hemophilia A
  • Rare hematologic disease
1 0 0
McCune-Albright syndrome
  • Rare developmental defect during embryogenesis
  • Rare skin disease
  • Rare endocrine disease
  • Rare bone disease
  • Rare oncologic disease
  • Rare gynecologic or obstetric disease
1 4 0
Menkes disease
  • Inborn errors of metabolism
  • Rare neurologic disease
  • Rare skin disease
  • Rare eye disease
1 21 0
Jeune syndrome
  • Rare developmental defect during embryogenesis
  • Rare respiratory disease
  • Rare renal disease
  • Rare bone disease
3 0 1
Jeune syndrome
  • Rare developmental defect during embryogenesis
  • Rare respiratory disease
  • Rare renal disease
  • Rare bone disease
3 0 1
Jeune syndrome
  • Rare developmental defect during embryogenesis
  • Rare respiratory disease
  • Rare renal disease
  • Rare bone disease
3 0 1
Familial hemophagocytic lymphohistiocytosis
  • Rare neurologic disease
  • Rare immune disease
1 0 0
Microphthalmia, Lenz type
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
  • Rare eye disease
2 0 0
Microphthalmia, Lenz type
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
  • Rare eye disease
2 0 0
Meckel syndrome
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
  • Rare abdominal surgical disease
  • Rare renal disease
  • Rare eye disease
  • Rare bone disease
  • Rare otorhinolaryngologic disease
  • Rare maxillo-facial surgical disease
3 1 0
Meckel syndrome
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
  • Rare abdominal surgical disease
  • Rare renal disease
  • Rare eye disease
  • Rare bone disease
  • Rare otorhinolaryngologic disease
  • Rare maxillo-facial surgical disease
3 1 0
Meckel syndrome
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
  • Rare abdominal surgical disease
  • Rare renal disease
  • Rare eye disease
  • Rare bone disease
  • Rare otorhinolaryngologic disease
  • Rare maxillo-facial surgical disease
3 1 0
Ellis Van Creveld syndrome
  • Rare developmental defect during embryogenesis
  • Rare respiratory disease
  • Rare skin disease
  • Rare bone disease
  • Rare surgical cardiac disease
1 0 0
Congenital muscular dystrophy type 1A
  • Rare neurologic disease
1 0 0
Autosomal recessive hyper-IgE syndrome
  • Rare immune disease
1 0 0
Partial chromosome Y deletion
  • Rare developmental defect during embryogenesis
  • Rare infertility disease
1 0 0
Primary CD59 deficiency
  • Rare neurologic disease
  • Rare hematologic disease
2 0 0
Primary CD59 deficiency
  • Rare neurologic disease
  • Rare hematologic disease
2 0 0
Apert syndrome
  • Rare developmental defect during embryogenesis
  • Rare eye disease
  • Rare bone disease
  • Rare otorhinolaryngologic disease
  • Rare maxillo-facial surgical disease
1 1 0
Idiopathic central precocious puberty
  • Rare gynecologic or obstetric disease
1 0 0
Familial paroxysmal ataxia
  • Rare neurologic disease
1 0 0
Recurrent Neisseria infections due to factor D deficiency
  • Rare immune disease
1 0 0
Lamellar ichthyosis
  • Rare skin disease
  • Rare eye disease
3 0 0
Lamellar ichthyosis
  • Rare skin disease
  • Rare eye disease
3 0 0
Lamellar ichthyosis
  • Rare skin disease
  • Rare eye disease
3 0 0
Mild hemophilia B
  • Rare hematologic disease
1 0 0
Moderately severe hemophilia B
  • Rare hematologic disease
1 0 0
Severe hemophilia B
  • Rare hematologic disease
1 0 0
Severe congenital nemaline myopathy
  • Rare neurologic disease
1 0 0
Intermediate nemaline myopathy
  • Rare neurologic disease
2 0 0
Intermediate nemaline myopathy
  • Rare neurologic disease
2 0 0
Typical nemaline myopathy
  • Rare neurologic disease
2 0 0
Typical nemaline myopathy
  • Rare neurologic disease
2 0 0
Childhood-onset nemaline myopathy
  • Rare neurologic disease
3 0 0
Childhood-onset nemaline myopathy
  • Rare neurologic disease
3 0 0
Childhood-onset nemaline myopathy
  • Rare neurologic disease
3 0 0
Muscle filaminopathy
  • Rare neurologic disease
1 0 0
X-linked spastic paraplegia type 34
  • Rare neurologic disease
0 0 0
Bruck syndrome
  • Rare developmental defect during embryogenesis
  • Rare odontologic disease
  • Rare bone disease
2 0 0
Bruck syndrome
  • Rare developmental defect during embryogenesis
  • Rare odontologic disease
  • Rare bone disease
2 0 0
Autosomal dominant spastic paraplegia type 37
  • Rare neurologic disease
0 0 0
Maternally-inherited cardiomyopathy and hearing loss
  • Rare cardiac disease
0 0 0
Autosomal dominant spastic paraplegia type 38
  • Rare neurologic disease
0 0 0
Autosomal recessive spastic paraplegia type 32
  • Rare neurologic disease
0 0 0
Autosomal recessive spastic paraplegia type 35
  • Rare neurologic disease
1 0 0
Treacher-Collins syndrome
  • Rare developmental defect during embryogenesis
  • Rare eye disease
  • Rare bone disease
  • Rare otorhinolaryngologic disease
  • Rare maxillo-facial surgical disease
1 0 0
Unverricht-Lundborg disease
  • Rare neurologic disease
2 0 0
Unverricht-Lundborg disease
  • Rare neurologic disease
2 0 0

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