Hermansky–Pudlak syndrome
id:
hermansky-pudlak-syndrome-264-14545306
title:
Hermansky–Pudlak syndrome
text:
Heřmanský–Pudlák syndrome is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and storage of an abnormal fat-protein compound. It is thought to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico. There are eight classic forms of the disorde
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome
date created:
date modified:
2024-03-23T04:19:21Z
main entity:
{"identifier":"Q1506216","url":"https://www.wikidata.org/entity/Q1506216"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15