Phenotype Library | Search Phenotypes

Hermansky-Pudlak Syndrome 2 (MONDO:0011997)

A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

Overview

Category

Ontology ID

Internal:13068

Synonyms

AP3B1 Hermansky-Pudlak syndrome

HPS-2

HPS2

Hermansky-Pudlak syndrome 2

Hermansky-Pudlak syndrome caused by mutation in AP3B1

Hermansky-Pudlak syndrome type 2

Hermansky Pudlak syndrome 2

Hermansky-Pudlak syndrome with neutropenia

Platelet defects and oculocutaneous albinism

Mapped terms

DOID:0060540

GARD:0015026

MEDGEN:374912

MESH:C537709

NANDO:2200733

NCIT:C150368

OMIM:608233

Orphanet:183678

Orphanet:664500

UMLS:C1842362

Child terms

Unknown children.