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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 chr30:14,399,747...14,447,113
Ensembl chr30:14,399,966...14,425,141 		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:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 More... NCBI chr30:14,372,019...14,400,262
Ensembl chr30:14,371,778...14,400,152 		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 chr30:14,399,747...14,447,113
Ensembl chr30:14,399,966...14,425,141 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:16357253 PMID:17999355 PMID:23010199 PMID:25741868 PMID:29025994 NCBI chr30:14,372,019...14,400,262
Ensembl chr30:14,371,778...14,400,152 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    syndrome 10619
      oculocutaneous albinism 92
        Nonsyndromic Oculocutaneous Albinism 13
          oculocutaneous albinism type VI 2
            Skin/Hair/Eye Pigmentation, Variation In, 4 2
Path 2
Term Annotations click to browse term
  disease 15755
    Pathological Conditions, Signs and Symptoms 12314
      Signs and Symptoms 10305
        Neurologic Manifestations 9981
          sensory system disease 7035
            skin disease 4107
              pigmentation disease 281
                Hypopigmentation 162
                  Albinism 107
                    oculocutaneous albinism 92
                      Nonsyndromic Oculocutaneous Albinism 13
                        oculocutaneous albinism type VI 2
                          Skin/Hair/Eye Pigmentation, Variation In, 4 2
paths to the root