Diseases

Hermanski-Pudlak Syndrome

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

MeSH Record

Classification

Related Concepts

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MeSH Record

Synonyms

3 entry terms
  • Hermansky-Pudlak Syndrome
  • Hermanski Pudlak Syndrome
  • Hermansky Pudlak Syndrome

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2001

MeSH Record

Previous Indexing

  • Albinism, Oculocutaneous (1990-2000)

MeSH Hierarchy

Tree Numbers

MeSH Record

NLM Classification

WR 265

AMA Style

References

  1. National Library of Medicine. Hermanski-Pudlak Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D022861. http://id.nlm.nih.gov/mesh/2026/D022861
  2. Hermanski-Pudlak Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome
  3. Hermanski-Pudlak Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1506216