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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:Myopia 26, X-Linked, Female-Limited
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Accession:DOID:9009093 term browser browse the term
Definition:A disease characterized by female-limited, early-onset high myopia. The fundus of patients shows a tigroid appearance, and there is a temporal crescent of the optic nerve head. MYP26 is caused by mutation in the ARR3 gene on chromosome Xq13. (OMIM)
Synonyms:exact_synonym: ARR3-RELATED CONDITION;   MYP26;   X-linked female-limited myopia 26
 primary_id: OMIM:301010



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Myopia 26, X-Linked, Female-Limited term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited OMIM
ClinVar
PMID:25741868 PMID:27829781 PMID:33482870 NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    sensory system disease 6892
      eye disease 3450
        refractive error 224
          myopia 181
            Myopia 26, X-Linked, Female-Limited 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Neurologic Manifestations 9994
          sensory system disease 6892
            eye disease 3450
              refractive error 224
                myopia 181
                  Myopia 26, X-Linked, Female-Limited 1
paths to the root