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DO Term : Hermansky-Pudlak syndrome 4 [DOID:0060542] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
  • synonyms:
  • OMIM:614073,
  • 614073
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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