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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, 10
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Accession:DOID:9000097 term browser browse the term
Synonyms:exact_synonym: SHEP10;   Skin-Hair-Eye Pigmentation 10, Blond-Brown Hair
 primary_id: MESH:C567376
 alt_id: OMIM:612267
For additional species annotation, visit the Alliance of Genome Resources.



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Skin/Hair/Eye Pigmentation, Variation In, 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 10 OMIM
ClinVar
PMID:18488028 PMID:25741868 NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      skin disease 3782
        pigmentation disease 450
          Skin/Hair/Eye Pigmentation, Variation In, 10 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            pigmentation disease 450
              Skin/Hair/Eye Pigmentation, Variation In, 10 1
paths to the root