Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
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 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4
CTD
ClinVar
PMID:16357253 PMID:17999355 PMID:23010199 PMID:25741868 PMID:29025994 NCBI chr 3:112,319,305...112,339,231
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 18256
    sensory system disease 6575
      skin disease 3880
        pigmentation disease 475
          Skin/Hair/Eye Pigmentation, Variation In, 4 2
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              pigmentation disease 475
                Hypopigmentation 153
                  Albinism 96
                    oculocutaneous albinism 82
                      Nonsyndromic Oculocutaneous Albinism 10
                        oculocutaneous albinism type VI 2
                          Skin/Hair/Eye Pigmentation, Variation In, 4 2
paths to the root