Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
MONDO:0017305
syndromic oculocutaneous albinism
is_a
MONDO:0017739
disorder of lysosomal-related organelles
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
HPS
exact
Hermansky Pudlak syndrome
related
SPAC23H3.06 SPAC144.06