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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, 7
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Accession:DOID:9007207 term browser browse the term
Synonyms:exact_synonym: SHEP7;   Skin-Hair-Eye Pigmentation 7, Blond-Brown Hair;   Skin-Hair-Eye Pigmentation 7, Dark-Light Skin
 primary_id: MESH:C567155
 alt_id: OMIM:611664

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Skin/Hair/Eye Pigmentation, Variation In, 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN ClinVar
OMIM		 PMID:17952075 PMID:18083106 PMID:24880339 NCBI chrNW_004955405:25,816,137...25,969,006
Ensembl chrNW_004955405:25,886,447...25,969,395 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      skin disease 3500
        pigmentation disease 238
          Skin/Hair/Eye Pigmentation, Variation In, 7 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              Skin Abnormalities 1197
                Skin/Hair/Eye Pigmentation, Variation In, 7 1
paths to the root