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Hermansky-Pudlak Syndrome 4

Disease ID: disease_node_20205

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DbxrefMIM:614073
SubclassofDOID_3753
Data SourceDOID
Doid LabelHermansky-Pudlak syndrome 4
Doid DescriptionA Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
Disease Node Iddisease_node_20205
Doid IdDOID_0060542
LabelHermansky-Pudlak Syndrome 4