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DO Term : Hermansky-Pudlak syndrome 2 [DOID:0060540] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.

synonyms:
608233,
MESH:C537709,
OMIM:608233

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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