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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: MYP26;   x-linked female-limited myopia 26
 primary_id: OMIM:301010
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:27829781 NCBI chr  X:70,438,590...70,452,140
Ensembl chr  X:70,438,617...70,452,067
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      eye disease 2673
        refractive error 171
          myopia 139
            Myopia 26, X-Linked, Female-Limited 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          eye disease 2673
            refractive error 171
              myopia 139
                Myopia 26, X-Linked, Female-Limited 1
paths to the root