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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11341888 PMID:15257456 PMID:16199547 PMID:17661825 PMID:20414678 More... NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        Eye Abnormalities 778
          coloboma 121
            Isolated Microphthalmia with Coloboma 10
              Isolated Microphthalmia with Coloboma 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              Eye Abnormalities 778
                microphthalmia 214
                  isolated microphthalmia 104
                    Isolated Microphthalmia with Coloboma 10
                      Isolated Microphthalmia with Coloboma 3 1
paths to the root