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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:Isolated Microphthalmia with Coloboma 3
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Accession:DOID:9005041 term browser browse the term
Synonyms:exact_synonym: MCOPCB3;   Microphthalmia, Colobomatous, Isolated 3
 narrow_synonym: MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES
 broad_synonym: VSX2-RELATED CONDITION
 primary_id: MESH:C566447
 alt_id: OMIM:610092

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Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 OMIM
ClinVar		 PMID:11341888 PMID:15257456 PMID:16199547 PMID:17661825 PMID:20414678 More... NCBI chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      eye disease 3166
        Eye Abnormalities 733
          coloboma 109
            Isolated Microphthalmia with Coloboma 10
              Isolated Microphthalmia with Coloboma 3 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
            eye disease 3166
              Eye Abnormalities 733
                microphthalmia 204
                  isolated microphthalmia 103
                    Isolated Microphthalmia with Coloboma 10
                      Isolated Microphthalmia with Coloboma 3 1
paths to the root