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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 V
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Accession:DOID:0070099 term browser browse the term
Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. (DO)
Synonyms:exact_synonym: OCA5;   oculocutaneous albinism type 5
 primary_id: OMIM:615312


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      oculocutaneous albinism 81
        Nonsyndromic Oculocutaneous Albinism 14
          oculocutaneous albinism type V 0
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              pigmentation disease 278
                Hypopigmentation 155
                  Albinism 98
                    oculocutaneous albinism 81
                      Nonsyndromic Oculocutaneous Albinism 14
                        oculocutaneous albinism type V 0
paths to the root