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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872
RGD:7240710
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 16022
    sensory system disease 4976
      eye disease 2390
        Hereditary Eye Diseases 550
          Albinism 47
            Hermansky-Pudlak syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          skin disease 2652
            pigmentation disease 215
              Hypopigmentation 102
                Albinism 47
                  oculocutaneous albinism 35
                    Syndromic Oculocutaneous Albinism 25
                      Hermansky-Pudlak syndrome 24
                        Hermansky-Pudlak syndrome 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.