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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 VI
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Accession:DOID:0080614 term browser browse the term
Definition:An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. (DO)
Synonyms:exact_synonym: OCA6;   SLC24A5-RELATED CONDITION;   oculocutaneous albinism-6
 primary_id: MIM:113750


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oculocutaneous albinism type VI term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI | ClinVar Annotator: match by term: SLC24A5-related condition ClinVar PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 More... NCBI chr 3:132,791,694...132,827,572
Ensembl chr 3:112,338,241...112,374,181 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI | ClinVar Annotator: match by term: SLC24A5-related condition OMIM
ClinVar		 PMID:16199547 PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 More... NCBI chr 3:132,772,804...132,792,342
Ensembl chr 3:112,319,308...112,339,231 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myef2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:23010199 PMID:25741868 NCBI chr 3:132,791,694...132,827,572
Ensembl chr 3:112,338,241...112,374,181 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16357253 PMID:17999355 PMID:23010199 PMID:25741868 PMID:29025994 NCBI chr 3:132,772,804...132,792,342
Ensembl chr 3:112,319,308...112,339,231 		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 VI 2
            Skin/Hair/Eye Pigmentation, Variation In, 4 2
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 VI 2
                          Skin/Hair/Eye Pigmentation, Variation In, 4 2
paths to the root