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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: MIM:612267


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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 PMID:36641477 NCBI chr 1:209,845,827...209,875,561
Ensembl chr 1:200,416,540...200,446,236 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19138
    sensory system disease 7373
      skin disease 4318
        pigmentation disease 309
          Skin/Hair/Eye Pigmentation, Variation In, 10 1
Path 2
Term Annotations click to browse term
  disease 19138
    disease of anatomical entity 18451
      nervous system disease 14359
        Neurologic Manifestations 10450
          sensory system disease 7373
            skin disease 4318
              Skin Abnormalities 1320
                Skin/Hair/Eye Pigmentation, Variation In, 10 1
paths to the root