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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, 1
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Accession:DOID:9000752 term browser browse the term
Synonyms:exact_synonym: BEY2;   BROWN EYE COLOR 2;   EYCL3;   EYE COLOR 3;   EYE COLOR, BLUE/NONBLUE;   EYE COLOR, BROWN/BLUE;   HAIR COLOR 3;   HCL3;   SHEP1;   SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR;   SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES;   SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
 primary_id: OMIM:227220;   RDO:9001117
For additional species annotation, visit the Alliance of Genome Resources.


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Skin/Hair/Eye Pigmentation, Variation In, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 OMIM
ClinVar
PMID:17236130 PMID:17952075 PMID:18172690 PMID:18252221 PMID:18252222 PMID:22234890 PMID:25741868 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
JBrowse link
G Irf4 interferon regulatory factor 4 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 ClinVar PMID:25741868 NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1 OMIM
ClinVar
PMID:7874125 PMID:10987646 PMID:12163334 PMID:12876664 PMID:15889046 PMID:18252222 PMID:23504663 PMID:25741868 PMID:30414346 NCBI chr 1:114,661,970...114,987,433
Ensembl chr 1:114,679,537...114,987,433
JBrowse link

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, 1 3
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, 1 3
paths to the root