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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
 alt_id: RDO:0009946
For additional species annotation, visit the Alliance of Genome Resources.


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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 ClinVar
OMIM
PMID:19864492, PMID:24281366, PMID:25741868 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
JBrowse link
G GDF6 growth differentiation factor 6 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar
PMID:19864492, PMID:23307924 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18836
    sensory system disease 5717
      eye disease 2994
        microphthalmia 101
          isolated microphthalmia 15
            Isolated Microphthalmia with Coloboma 7
              Isolated Microphthalmia with Coloboma 6 2
Path 2
Term Annotations click to browse term
  disease 18836
    disease of anatomical entity 17322
      nervous system disease 13416
        sensory system disease 5717
          eye disease 2994
            Eye Abnormalities 420
              microphthalmia 101
                isolated microphthalmia 15
                  Isolated Microphthalmia with Coloboma 7
                    Isolated Microphthalmia with Coloboma 6 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.