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Disease association ontology term - MONDO:0011997 - Hermansky-Pudlak syndrome 2

Term summary

ID
MONDO:0011997
Name
Hermansky-Pudlak syndrome 2
Ontology or CV name
Disease association
Definition
A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

Parents

Annotation

Disease association

MONDO:0011997 - Hermansky-Pudlak syndrome 2

References:

Genes: