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ONTOLOGY REPORT - ANNOTATIONS


Term:Hermansky-Pudlak syndrome 2
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Accession:DOID:0060540 term browser browse the term
Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. (DO)
Synonyms:exact_synonym: HPS2;   Hermansky-Pudlak syndrome with neutropenia;   Platelet defects and oculocutaneous albinism
 primary_id: MESH:C537709
 alt_id: OMIM:608233
 xref: ORDO:183678
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Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link 2 24,022,815 24,227,522 RGD:7240710
RGD:8554872
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:13592920
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      oculocutaneous albinism 35
        Syndromic Oculocutaneous Albinism 25
          Hermansky-Pudlak syndrome 24
            Hermansky-Pudlak syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          skin disease 2654
            pigmentation disease 215
              Hypopigmentation 102
                Albinism 47
                  oculocutaneous albinism 35
                    Syndromic Oculocutaneous Albinism 25
                      Hermansky-Pudlak syndrome 24
                        Hermansky-Pudlak syndrome 2 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.