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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/Coloboma 12
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Accession:DOID:9007943 term browser browse the term
Synonyms:exact_synonym: MCOPCB12
 primary_id: OMIM:120200


show annotations for term's descendants           Sort by:
Microphthalmia/Coloboma 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO OMIM NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        Eye Abnormalities 781
          coloboma 121
            Isolated Microphthalmia with Coloboma 10
              Microphthalmia/Coloboma 12 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              Eye Abnormalities 781
                microphthalmia 215
                  isolated microphthalmia 104
                    Isolated Microphthalmia with Coloboma 10
                      Microphthalmia/Coloboma 12 1
paths to the root