Orphanet

Rare Disorder Name Rare Disease Categories IMPC Status Number of Related Mouse Genes No of Stock Hits Number of SNV hits
Familial hyperreninemic hypoaldosteronism type 1
  • Rare endocrine disease
2 0 0
Familial hyperreninemic hypoaldosteronism type 1
  • Rare endocrine disease
2 0 0
Dentin dysplasia type II
  • Rare odontologic disease
1 0 0
Dentin dysplasia type I
  • Rare odontologic disease
1 0 0
Familial porencephaly
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
1 4 0
Oculootodental syndrome
  • Rare developmental defect during embryogenesis
  • Rare odontologic disease
2 0 0
Oculootodental syndrome
  • Rare developmental defect during embryogenesis
  • Rare odontologic disease
2 0 0
Haddad syndrome
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
  • Rare abdominal surgical disease
2 0 0
Haddad syndrome
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
  • Rare abdominal surgical disease
2 0 0
Hemimegalencephaly
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
2 0 0
Hemimegalencephaly
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
2 0 0
Oligodontia
  • Rare odontologic disease
6 17 0
Oligodontia
  • Rare odontologic disease
6 17 0
Oligodontia
  • Rare odontologic disease
6 17 0
Oligodontia
  • Rare odontologic disease
6 17 0
Oligodontia
  • Rare odontologic disease
6 17 0
Oligodontia
  • Rare odontologic disease
6 17 0
Subcortical band heterotopia
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
2 0 0
Subcortical band heterotopia
  • Rare developmental defect during embryogenesis
  • Rare neurologic disease
2 0 0
Familial gestational hyperthyroidism
  • Rare renal disease
  • Rare endocrine disease
  • Rare circulatory system disease
  • Rare gynecologic or obstetric disease
1 0 0
Turcot syndrome with polyposis
  • Rare gastroenterologic disease
  • Rare neurologic disease
  • Rare oncologic disease
1 2 0
Non-polyposis Turcot syndrome
  • Rare gastroenterologic disease
  • Rare neurologic disease
  • Rare oncologic disease
  • Rare gynecologic or obstetric disease
2 0 1
Non-polyposis Turcot syndrome
  • Rare gastroenterologic disease
  • Rare neurologic disease
  • Rare oncologic disease
  • Rare gynecologic or obstetric disease
2 0 1
LIG4 syndrome
  • Rare immune disease
  • Rare oncologic disease
1 2 0
Leukocyte adhesion deficiency type I
  • Rare immune disease
2 0 0
Leukocyte adhesion deficiency type I
  • Rare immune disease
2 0 0
Resistance to thyrotropin-releasing hormone syndrome
  • Rare endocrine disease
1 0 1
Cree leukoencephalopathy
  • Rare neurologic disease
1 1 0
Ovarioleukodystrophy
  • Rare neurologic disease
1 1 0
Leukocyte adhesion deficiency type III
  • Rare developmental defect during embryogenesis
  • Rare immune disease
  • Rare bone disease
1 0 0
Leukocyte adhesion deficiency type II
  • Inborn errors of metabolism
  • Rare neurologic disease
  • Rare immune disease
1 0 0
Genetic recurrent myoglobinuria
  • Inborn errors of metabolism
  • Rare neurologic disease
1 0 0
Glycogen storage disease due to muscle beta-enolase deficiency
  • Inborn errors of metabolism
  • Rare neurologic disease
1 0 0
Hashimoto-Pritzker syndrome
  • Rare respiratory disease
  • Rare hematologic disease
  • Rare systemic or rheumatologic disease
  • Rare oncologic disease
1 0 0
Precursor T-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
4 0 0
Precursor T-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
4 0 0
Precursor T-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
4 0 0
Precursor T-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
4 0 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Precursor B-cell acute lymphoblastic leukemia
  • Rare hematologic disease
  • Rare oncologic disease
11 1 0
Transient neonatal diabetes mellitus
  • Rare endocrine disease
2 0 0

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