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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hermansky-Pudlak syndrome 5
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Accession:DOID:0060543 term browser browse the term
Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. (DO)
Synonyms:exact_synonym: HPS5;   HPS5-RELATED CONDITION
 primary_id: OMIM:614074


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Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 OMIM
ClinVar		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More... NCBI chr11:18,313,846...18,357,558
Ensembl chr11:17,999,116...18,042,724 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      oculocutaneous albinism 80
        Syndromic Oculocutaneous Albinism 65
          Hermansky-Pudlak syndrome 33
            Hermansky-Pudlak syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            skin disease 3772
              pigmentation disease 252
                Hypopigmentation 147
                  Albinism 95
                    oculocutaneous albinism 80
                      Syndromic Oculocutaneous Albinism 65
                        Hermansky-Pudlak syndrome 33
                          Hermansky-Pudlak syndrome 5 1
paths to the root