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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:X-linked juvenile retinoschisis 1
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Accession:DOID:0060763 term browser browse the term
Definition:A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: RS1;   X-linked juvenile retinoschisis;   X-linked retinoschisis;   XLRS;   XLRS1;   congenital X-linked retinoschisis;   juvenile retinoschisis, X chromosome-linked
 primary_id: OMIM:312700
 alt_id: RDO:9003957
 xref: ICD10CM:Q14.1;   NCI:C75483;   ORDO:792
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked juvenile retinoschisis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rs1 retinoschisin 1 ISO OMIM NCBI chr  X:33,963,657...33,992,115
Ensembl chr  X:33,963,657...33,992,115
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        eye degenerative disease 508
          retinal degeneration 506
            retinoschisis 3
              X-linked juvenile retinoschisis 1 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          neurodegenerative disease 3507
            eye degenerative disease 508
              retinal degeneration 506
                retinoschisis 3
                  X-linked juvenile retinoschisis 1 1
paths to the root