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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 8
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Accession:DOID:0060546 term browser browse the term
Definition:A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: BLOC1S3-RELATED CONDITION;   HPS8
 primary_id: OMIM:614077


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Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 ISO
ISS		 ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8
OMIM:614077		 OMIM
ClinVar
MouseDO		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:79,155,873...79,158,247
Ensembl chr 1:79,155,693...79,158,505 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      oculocutaneous albinism 81
        Syndromic Oculocutaneous Albinism 66
          Hermansky-Pudlak syndrome 35
            Hermansky-Pudlak syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              pigmentation disease 278
                Hypopigmentation 155
                  Albinism 98
                    oculocutaneous albinism 81
                      Syndromic Oculocutaneous Albinism 66
                        Hermansky-Pudlak syndrome 35
                          Hermansky-Pudlak syndrome 8 1
paths to the root