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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, 11
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Accession:DOID:9003127 term browser browse the term
Synonyms:exact_synonym: Melanesian Blond Hair;   SHEP11;   Skin-Hair-Eye Pigmentation 11, Blue-Nonblue Eyes
 primary_id: MESH:C567374
 alt_id: OMIM:612271
For additional species annotation, visit the Alliance of Genome Resources.



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Skin/Hair/Eye Pigmentation, Variation In, 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 11 OMIM
ClinVar
PMID:22556244 PMID:28492532 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    sensory system disease 6412
      skin disease 3782
        pigmentation disease 451
          Skin/Hair/Eye Pigmentation, Variation In, 11 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        sensory system disease 6412
          skin disease 3782
            pigmentation disease 451
              Skin/Hair/Eye Pigmentation, Variation In, 11 1
paths to the root