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Hermansky-Pudlak syndrome without pulmonary fibrosis

Disease definition

Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.

ORPHA:231512

  • Synonym(s):
    • HPS without pulmonary fibrosis
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: 614072  614074  614075
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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