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Hermansky-Pudlak syndrome with neutropenia

Disease definition

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.


Classification level: Subtype of disorder
  • Synonym(s):
    • HPS2
    • Hermansky-Pudlak syndrome type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • OMIM: 608233
  • UMLS: C1842362
  • MeSH: -
  • GARD: 9435
  • MedDRA: -

Detailed information


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