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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:Microphthalmia, Cataracts, and Iris Abnormalities
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Accession:DOID:9003342 term browser browse the term
Synonyms:primary_id: MESH:C566448;   RDO:0014799


show annotations for term's descendants           Sort by:
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 IMP RGD PMID:20735985 RGD:12880033 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:10932181 PMID:11341888 PMID:17661825 PMID:23028343 PMID:25741868 More... NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    sensory system disease 6744
      eye disease 3459
        microphthalmia 212
          Microphthalmia, Cataracts, and Iris Abnormalities 2
Path 2
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Signs and Symptoms 10134
        Neurologic Manifestations 9788
          sensory system disease 6744
            eye disease 3459
              Eye Abnormalities 787
                coloboma 123
                  Microphthalmia, Cataracts, and Iris Abnormalities 2
paths to the root