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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 18976
    sensory system disease 7022
      eye disease 3492
        corneal disease 235
          Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              retinal disease 1224
                retinal degeneration 854
                  fundus dystrophy 703
                    cone-rod dystrophy 106
                      Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 1
paths to the root