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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:Skin/Hair/Eye Pigmentation, Variation In, 4
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Accession:DOID:9001735 term browser browse the term
Synonyms:narrow_synonym: SHEP4;   SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN
 primary_id: MESH:C567300;   RDO:0015412
For additional species annotation, visit the Alliance of Genome Resources.


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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:23985994 PMID:25741868 NCBI chr 3:117,353,490...117,389,582
Ensembl chr 3:117,354,382...117,389,561
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:23985994 PMID:25741868 PMID:31949055 NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      skin disease 2746
        pigmentation disease 221
          Skin/Hair/Eye Pigmentation, Variation In, 4 2
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            pigmentation disease 221
              Hypopigmentation 107
                Albinism 49
                  oculocutaneous albinism 37
                    Nonsyndromic Oculocutaneous Albinism 9
                      oculocutaneous albinism type VI 2
                        Skin/Hair/Eye Pigmentation, Variation In, 4 2
paths to the root