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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:retinoschisis
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Accession:DOID:8465 term browser browse the term
Definition:A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.
Synonyms:exact_synonym: Degenerative Retinoschises;   Degenerative Retinoschisis;   Juvenile Retinoschises;   Juvenile Retinoschisis;   RS;   Retinoschises
 primary_id: MESH:D041441
 xref: ICD10CM:H33.10;   ICD9CM:361.10;   NCI:C85046
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
retinoschisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis ClinVar PMID:618178 PMID:6361673 PMID:9326935 PMID:9536098 PMID:9618178 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Rs1 retinoschisin 1 treatment ISO DNA:missense mutations, nonsense mutation:multiple
DNA:mutations:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis		 CTD
ClinVar
RGD		 PMID:618178 PMID:6361673 PMID:9326935 PMID:9536098 PMID:9618178 More... RGD:9587798, RGD:9587800, RGD:9587801, RGD:9587803, RGD:9587805, RGD:1600147, RGD:1600148 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Tyr tyrosinase treatment ISO RGD PMID:20876567 RGD:8694343 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
X-linked juvenile retinoschisis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Retinoschisis juvenile X chromosome-linked | ClinVar Annotator: match by term: X-Linked Juvenile Retinoschisis ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Rs1 retinoschisin 1 ISO
ISS		 ClinVar Annotator: match by term: Retinoschisis juvenile X chromosome-linked | ClinVar Annotator: match by term: X-Linked Juvenile Retinoschisis
OMIM:312700		 OMIM
ClinVar
MouseDO		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7331
      eye disease 3696
        retinal disease 1401
          retinal degeneration 854
            retinoschisis 3
              Retinoschisis of Fovea 0
              Retinoschisis, Autosomal Dominant 0
              X-linked juvenile retinoschisis 1 2
              bullous retinoschisis 0
              flat retinoschisis 0
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              eye degenerative disease 856
                retinal degeneration 854
                  retinoschisis 3
                    Retinoschisis of Fovea 0
                    Retinoschisis, Autosomal Dominant 0
                    X-linked juvenile retinoschisis 1 2
                    bullous retinoschisis 0
                    flat retinoschisis 0
paths to the root