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DO Term : Hermansky-Pudlak syndrome 8 [DOID:0060546] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.

synonyms:
OMIM:614077,
614077

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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