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Hermansky-Pudlak Syndrome 5

Disease ID: disease_node_20204

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DbxrefMIM:614074
SubclassofDOID_3753
Data SourceDOID
Doid LabelHermansky-Pudlak syndrome 5
Doid DescriptionA Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
Disease Node Iddisease_node_20204
Doid IdDOID_0060543
LabelHermansky-Pudlak Syndrome 5