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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 6
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Accession:DOID:9001685 term browser browse the term
Synonyms:exact_synonym: MCOPCB6
 primary_id: OMIM:613703


show annotations for term's descendants           Sort by:
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19864492 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6		 OMIM
CTD
ClinVar		 PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 More... NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        Eye Abnormalities 781
          coloboma 121
            Isolated Microphthalmia with Coloboma 10
              Isolated Microphthalmia with Coloboma 6 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              Eye Abnormalities 781
                microphthalmia 215
                  isolated microphthalmia 104
                    Isolated Microphthalmia with Coloboma 10
                      Isolated Microphthalmia with Coloboma 6 2
paths to the root