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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 10
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Accession:DOID:9006228 term browser browse the term
Definition:An autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. (OMIM)
Synonyms:exact_synonym: AP3D1-RELATED CONDITION;   HPS10
 primary_id: OMIM:617050

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Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... NCBI chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      oculocutaneous albinism 77
        Syndromic Oculocutaneous Albinism 63
          Hermansky-Pudlak syndrome 31
            Hermansky-Pudlak Syndrome 10 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6160
            skin disease 3500
              pigmentation disease 238
                Hypopigmentation 139
                  Albinism 92
                    oculocutaneous albinism 77
                      Syndromic Oculocutaneous Albinism 63
                        Hermansky-Pudlak syndrome 31
                          Hermansky-Pudlak Syndrome 10 1
paths to the root