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Hermansky-Pudlak Syndrome 6

Disease ID: disease_node_20203

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DbxrefMIM:614075
SubclassofDOID_3753
Data SourceDOID
Doid LabelHermansky-Pudlak syndrome 6
Doid DescriptionA Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.
Disease Node Iddisease_node_20203
Doid IdDOID_0060544
LabelHermansky-Pudlak Syndrome 6