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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: OMIM:142500
For additional species annotation, visit the Alliance of Genome Resources.



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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 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    sensory system disease 6520
      skin disease 3877
        pigmentation disease 475
          Heterochromia Iridis 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        sensory system disease 6520
          eye disease 3004
            uveal disease 240
              iris disease 53
                Heterochromia Iridis 1
paths to the root