Hermansky-Pudlak syndrome 2
A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
MONDO:0015134
constitutional neutropenia
is_a
MONDO:0015541
hereditary hemophagocytic lymphohistiocytosis
is_a
MONDO:0019312
Hermansky-Pudlak syndrome
is_a
AP3B1 Hermansky-Pudlak syndrome
exact
HPS-2
exact
HPS2
exact
Hermansky Pudlak syndrome 2
related
Hermansky-Pudlak syndrome 2
exact
Hermansky-Pudlak syndrome caused by mutation in AP3B1
exact
Hermansky-Pudlak syndrome type 2
exact
Platelet defects and oculocutaneous albinism
related
SPAC23H3.06