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Hermansky-Pudlak Syndrome 8

Disease ID: disease_node_20201

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DbxrefMIM:614077
SubclassofDOID_3753
Data SourceDOID
Doid LabelHermansky-Pudlak syndrome 8
Doid DescriptionA Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.
Disease Node Iddisease_node_20201
Doid IdDOID_0060546
LabelHermansky-Pudlak Syndrome 8