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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:212550
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    physical disorder 2965
      congenital nystagmus 14
        Isolated Microphthalmia with Cataract 2 1
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      nervous system disease 11927
        peripheral nervous system disease 2455
          neuropathy 2256
            cranial nerve disease 418
              ocular motility disease 133
                pathologic nystagmus 31
                  congenital nystagmus 14
                    Isolated Microphthalmia with Cataract 2 1
paths to the root