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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:Oculocutaneous Albinism Type VIII
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Accession:DOID:9001432 term browser browse the term
Synonyms:exact_synonym: OCA8
 primary_id: MIM:619165


show annotations for term's descendants           Sort by:
Oculocutaneous Albinism Type VIII term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII OMIM
ClinVar		 PMID:25741868 PMID:33100333 PMID:33959807 NCBI chr15:101,469,159...101,508,029
Ensembl chr15:95,062,003...95,100,836 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      oculocutaneous albinism 96
        Nonsyndromic Oculocutaneous Albinism 16
          Oculocutaneous Albinism Type VIII 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              pigmentation disease 312
                Hypopigmentation 174
                  Albinism 113
                    oculocutaneous albinism 96
                      Nonsyndromic Oculocutaneous Albinism 16
                        Oculocutaneous Albinism Type VIII 1
paths to the root