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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:high hyperopia
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Accession:DOID:9002594 term browser browse the term
Synonyms:primary_id: MESH:C565497
 alt_id: RDO:0014114
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
high hyperopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfrp membrane frizzled-related protein ISO DNA:missense, deletion, duplication mutations:cds: RGD PMID:26583794 RGD:11076374 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    sensory system disease 5201
      eye disease 2608
        Hereditary Eye Diseases 579
          high hyperopia 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        sensory system disease 5201
          eye disease 2608
            refractive error 171
              hyperopia 26
                high hyperopia 1
paths to the root