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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: MIM:611638


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5		 OMIM
CTD
ClinVar		 PMID:9302262 PMID:10556296 PMID:12503095 PMID:12709790 PMID:15292211 More... NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      eye disease 3695
        Eye Abnormalities 811
          coloboma 133
            Isolated Microphthalmia with Coloboma 11
              Isolated Microphthalmia with Coloboma 5 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        Neurologic Manifestations 10417
          sensory system disease 7326
            eye disease 3695
              Eye Abnormalities 811
                microphthalmia 229
                  isolated microphthalmia 104
                    Isolated Microphthalmia with Coloboma 11
                      Isolated Microphthalmia with Coloboma 5 1
paths to the root