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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, 3
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Accession:DOID:9000570 term browser browse the term
Synonyms:exact_synonym: EYCL1;   EYE COLOR 1;   EYE COLOR, GREEN/BLUE;   GEY;   SHEP3;   SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR;   SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING;   SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
 narrow_synonym: Melanoma, cutaneous malignant, susceptibility to, 8
 primary_id: OMIM:601800


show annotations for term's descendants           Sort by:
Skin/Hair/Eye Pigmentation, Variation In, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3 OMIM
ClinVar		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    sensory system disease 6948
      skin disease 3966
        pigmentation disease 278
          Skin/Hair/Eye Pigmentation, Variation In, 3 1
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            skin disease 3966
              Skin Abnormalities 1296
                Skin/Hair/Eye Pigmentation, Variation In, 3 1
paths to the root