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 14875
    syndrome 4220
      Hermansky-Pudlak syndrome 26
        Hermansky-Pudlak syndrome 1 4
Path 2
Term Annotations click to browse term
  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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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.