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DO Term : Hermansky-Pudlak syndrome 9 [DOID:0060547] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
  • synonyms:
  • OMIM:614171,
  • 614171
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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