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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



show annotations for term's descendants           Sort by:
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 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        corneal disease 233
          Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              retinal disease 1215
                retinal degeneration 846
                  fundus dystrophy 699
                    cone-rod dystrophy 106
                      Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
paths to the root