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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:Heterochromia Iridis
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Accession:DOID:9007388 term browser browse the term
Synonyms:exact_synonym: asymmetry in the pigmentation of the irides;   pigmentary abnormality of the anterior segment of the eye
 primary_id: MESH:C538115
 alt_id: MIM:142500


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Heterochromia Iridis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:8659547 PMID:9856573 PMID:25741868 NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      skin disease 4322
        pigmentation disease 312
          Heterochromia Iridis 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            eye disease 3731
              uveal disease 242
                iris disease 54
                  Heterochromia Iridis 1
paths to the root