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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: MIM:238950



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 8:53,342,483...53,347,696
Ensembl chr 8:44,445,697...44,450,859
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        Hereditary Eye Diseases 1130
          High Hyperopia 1
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              refractive error 243
                hyperopia 51
                  High Hyperopia 1
paths to the root