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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, 5
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Accession:DOID:9006017 term browser browse the term
Synonyms:exact_synonym: SHEP5;   Skin-Hair-Eye Pigmentation 5, Black-Nonblack Hair;   Skin-Hair-Eye Pigmentation 5, Dark-Fair Skin;   Skin-Hair-Eye Pigmentation 5, Dark-Light Eyes
 primary_id: MESH:C567119
 alt_id: OMIM:227240
For additional species annotation, visit the Alliance of Genome Resources.


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Skin/Hair/Eye Pigmentation, Variation In, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5 ClinVar
OMIM
PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 PMID:19578363 PMID:25741868 PMID:28492532 NCBI chr 2:60,966,671...60,999,398
Ensembl chr 2:60,966,789...60,999,398
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      skin disease 2747
        pigmentation disease 221
          Skin/Hair/Eye Pigmentation, Variation In, 5 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          skin disease 2747
            pigmentation disease 221
              Skin/Hair/Eye Pigmentation, Variation In, 5 1
paths to the root