FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Hermansky-Pudlak syndrome 9 ID (Ontology) DOID:0060547 (Human Disease)
Definition A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 Hermansky-Pudlak syndrome 9       3      2      1
 ameliorates | Hermansky-Pudlak syndrome 9       1       --       --
 for disease ribbon | Hermansky-Pudlak syndrome 9       --       1       --
 model of | Hermansky-Pudlak syndrome 9       2      1       --
Spanning Tree (Parents/Children)
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autosomal recessive disease__
syndrome_____________________|
                             Hermansky-Pudlak syndrome
                              |__Hermansky-Pudlak syndrome 9  6 rec.
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MIM:614171