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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:Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1
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Accession:DOID:9008938 term browser browse the term
Synonyms:exact_synonym: MRCS1
 primary_id: OMIM:619082
For additional species annotation, visit the Alliance of Genome Resources.


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Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1 OMIM
ClinVar
PMID:30945270 NCBI chr 1:221,504,150...221,516,191
Ensembl chr 1:221,504,170...221,516,110
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      eye disease 2646
        corneal disease 198
          Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          eye disease 2646
            eye degenerative disease 481
              retinal degeneration 479
                fundus dystrophy 344
                  cone-rod dystrophy 64
                    Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
paths to the root