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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 Cataract 2
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Accession:DOID:9007101 term browser browse the term
Synonyms:exact_synonym: MCOPCT2;   microphthalmia and cataract 2;   microphthalmia, cataract, and nystagmus
 primary_id: MESH:C565876



show annotations for term's descendants           Sort by:
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:97,357,883...97,375,415
Ensembl chr 6:91,634,568...91,639,548
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    physical disorder 5192
      congenital nystagmus 24
        Isolated Microphthalmia with Cataract 2 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              ocular motility disease 258
                pathologic nystagmus 110
                  congenital nystagmus 24
                    Isolated Microphthalmia with Cataract 2 1
paths to the root