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Hermansky-Pudlak Syndrome 9

Disease ID: disease_node_20200

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DbxrefMIM:614171
SubclassofDOID_3753
Data SourceDOID
Doid LabelHermansky-Pudlak syndrome 9
Doid DescriptionA Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
Disease Node Iddisease_node_20200
Doid IdDOID_0060547
LabelHermansky-Pudlak Syndrome 9