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ONTOLOGY REPORT - ANNOTATIONS


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;   ORDO:792
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X-linked juvenile retinoschisis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    sensory system disease 4766
      eye disease 2337
        eye degenerative disease 418
          retinal degeneration 416
            retinoschisis 3
              X-linked juvenile retinoschisis 1 1
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      nervous system disease 10397
        central nervous system disease 8545
          neurodegenerative disease 2951
            eye degenerative disease 418
              retinal degeneration 416
                retinoschisis 3
                  X-linked juvenile retinoschisis 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.