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ONTOLOGY REPORT - ANNOTATIONS


Term:Hermansky-Pudlak syndrome 6
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Accession:DOID:0060544 term browser browse the term
Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: HPS6
 primary_id: OMIM:614075
 xref: NCI:C150369
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Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 1 265,761,818 265,764,427 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      oculocutaneous albinism 35
        Syndromic Oculocutaneous Albinism 25
          Hermansky-Pudlak syndrome 24
            Hermansky-Pudlak syndrome 6 1
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 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.