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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 IAGP 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 chr15:48,134,632...48,178,295
Ensembl chr15:48,134,632...48,178,353 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 IAGP ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI
ClinVar Annotator: match by term: SLC24A5-related condition		 ClinVar
OMIM		 PMID:16199547 PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 More... NCBI chr15:48,120,990...48,142,672
Ensembl chr15:48,120,990...48,142,672 		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 IAGP ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:23010199 PMID:25741868 NCBI chr15:48,134,632...48,178,295
Ensembl chr15:48,134,632...48,178,353 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 IAGP
EXP		 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 chr15:48,120,990...48,142,672
Ensembl chr15:48,120,990...48,142,672 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    syndrome 38717
      oculocutaneous albinism 123
        Nonsyndromic Oculocutaneous Albinism 20
          oculocutaneous albinism type VI 2
            Skin/Hair/Eye Pigmentation, Variation In, 4 2
Path 2
Term Annotations click to browse term
  disease 145369
    Pathological Conditions, Signs and Symptoms 69045
      Signs and Symptoms 45355
        Neurologic Manifestations 37765
          sensory system disease 26548
            skin disease 13052
              pigmentation disease 569
                Hypopigmentation 339
                  Albinism 142
                    oculocutaneous albinism 123
                      Nonsyndromic Oculocutaneous Albinism 20
                        oculocutaneous albinism type VI 2
                          Skin/Hair/Eye Pigmentation, Variation In, 4 2
paths to the root