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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 5
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Accession:DOID:9004387 term browser browse the term
Synonyms:exact_synonym: MCOPCB5
 primary_id: MESH:C566899
 alt_id: OMIM:611638;   RDO:0015113
For additional species annotation, visit the Alliance of Genome Resources.


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Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5
OMIM
ClinVar
PMID:9302262, PMID:10556296, PMID:12503095, PMID:18414213, PMID:20425842, PMID:25741868, PMID:30311386 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      eye disease 2652
        microphthalmia 98
          isolated microphthalmia 14
            Isolated Microphthalmia with Coloboma 7
              Isolated Microphthalmia with Coloboma 5 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            Eye Abnormalities 365
              microphthalmia 98
                isolated microphthalmia 14
                  Isolated Microphthalmia with Coloboma 7
                    Isolated Microphthalmia with Coloboma 5 1
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.