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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, 8
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Accession:DOID:9006853 term browser browse the term
Synonyms:exact_synonym: IRF4-RELATED CONDITION;   Shep8;   Skin-Hair-Eye Pigmentation 8, Freckling
 primary_id: MESH:C567096
 alt_id: MIM:611724


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Skin/Hair/Eye Pigmentation, Variation In, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf4 interferon regulatory factor 4 ISO ClinVar Annotator: match by term: IRF4-related condition | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 8 OMIM
ClinVar		 PMID:18483556 PMID:24267888 PMID:25631878 PMID:25741868 PMID:28492532 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      skin disease 4320
        pigmentation disease 311
          Skin/Hair/Eye Pigmentation, Variation In, 8 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              Skin Abnormalities 1321
                Skin/Hair/Eye Pigmentation, Variation In, 8 1
paths to the root