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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;   RDO:0015462
 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:24449225 PMID:28492532 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      skin disease 2746
        pigmentation disease 221
          Skin/Hair/Eye Pigmentation, Variation In, 11 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            pigmentation disease 221
              Skin/Hair/Eye Pigmentation, Variation In, 11 1
paths to the root