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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


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 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 3:112,319,349...112,338,889
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 19137
    sensory system disease 7376
      skin disease 4320
        pigmentation disease 311
          Skin/Hair/Eye Pigmentation, Variation In, 4 2
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              pigmentation disease 311
                Hypopigmentation 172
                  Albinism 111
                    oculocutaneous albinism 94
                      Nonsyndromic Oculocutaneous Albinism 14
                        oculocutaneous albinism type VI 2
                          Skin/Hair/Eye Pigmentation, Variation In, 4 2
paths to the root