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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:Cavitary Optic Disc Anomalies
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Accession:DOID:9009011 term browser browse the term
Synonyms:exact_synonym: CODA
 primary_id: MESH:C566924;   RDO:0015134
 alt_id: OMIM:611543
For additional species annotation, visit the Alliance of Genome Resources.



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Cavitary Optic Disc Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp19 matrix metallopeptidase 19 ISO ClinVar Annotator: match by term: Cavitary optic disc anomalies OMIM
ClinVar
PMID:10764862 PMID:25581579 PMID:25741868 NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        Hereditary Eye Diseases 758
          Cavitary Optic Disc Anomalies 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            Hereditary Eye Diseases 758
              Cavitary Optic Disc Anomalies 1
paths to the root