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Hermansky-Pudlak Syndrome 7

Disease ID: disease_node_20202

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DbxrefMIM:614076
SubclassofDOID_3753
Data SourceDOID
Doid LabelHermansky-Pudlak syndrome 7
Doid DescriptionA Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
Disease Node Iddisease_node_20202
Doid IdDOID_0060545
LabelHermansky-Pudlak Syndrome 7