Term:Hermansky-Pudlak syndrome 1
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Accession:DOID:0060539 term browser browse the term
Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells;   Delta storage pool disease;   HPS1
 primary_id: MESH:C538539
 alt_id: OMIM:203300;   RDO:0004482
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Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:13592920
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:1625056
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Hermansky-Pudlak syndrome 26
        Hermansky-Pudlak syndrome 1 4
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            pigmentation disease 212
              Hypopigmentation 103
                Albinism 51
                  oculocutaneous albinism 41
                    Hermansky-Pudlak syndrome 26
                      Hermansky-Pudlak syndrome 1 4
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