Rare diseases are rare, but
rare disease patients are numerous

Diseases list

• Disease-causing germline mutation(s) in Bilateral striopallidodentate calcinosis
• Disease-causing germline mutation(s) in Infantile myofibromatosis
• Disease-causing germline mutation(s) (gain of function) in Acroosteolysis-keloid-like lesions-premature aging syndrome
• Part of a fusion gene in Chronic myelomonocytic leukemia
• Part of a fusion gene in Myeloid neoplasm associated with PDGFRB rearrangement
• Part of a fusion gene in Primary hypereosinophilic syndrome
• Part of a fusion gene in Unclassified chronic myeloproliferative disease

• Additional information
  • Health care resources for this gene
    • Diagnostic tests (12)
  • Research activities on this gene
    • Research projects (0)
    • Registries/biobanks (0)
    • Clinical trials (0)
    • Networks (0)
  • Specialised Social Services
    • Eurordis directory
  • Orphanet Reports series
    • Prevalence of rare diseases
    • Orphan drugs in Europe
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