.
X-linked juvenile retinoschisis 1 - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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;   RS1-RELATED CONDITION;   X-linked juvenile retinoschisis;   X-linked retinoschisis;   XLRS;   XLRS1;   congenital X-linked retinoschisis;   juvenile retinoschisis, X chromosome-linked
 primary_id: MIM:312700
 alt_id: RDO:9003957
 xref: ICD10CM:Q14.1;   NCI:C75483;   ORDO:792

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
X-linked juvenile retinoschisis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chrNW_004624829:3,288,239...3,479,620
Ensembl chrNW_004624829:3,356,580...3,472,832 		JBrowse link
G G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:16,955,540...17,101,513 JBrowse link
G P CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855 		JBrowse link
G S Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		JBrowse link
G D CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233 		JBrowse link
G B CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735 		JBrowse link
G C Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485 		JBrowse link
G R Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G M Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G H CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: RS1-related condition ClinVar PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G N Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: RS1-related condition OMIM
ClinVar		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chrNW_004624829:3,485,635...3,498,431
Ensembl chrNW_004624829:3,485,708...3,518,447 		JBrowse link
G G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: RS1-related condition OMIM
ClinVar		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:17,089,382...17,105,145
Ensembl chr  X:17,089,598...17,118,447 		JBrowse link
G P RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: RS1-related condition OMIM
ClinVar		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243 		JBrowse link
G S Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: RS1-related condition OMIM
ClinVar		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chrNW_004936844:284,938...314,524
Ensembl chrNW_004936844:284,141...314,545 		JBrowse link
G D RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: RS1-related condition OMIM
ClinVar		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492 		JBrowse link
G B RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: RS1-related condition OMIM
ClinVar		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315 		JBrowse link
G R Rs1 retinoschisin 1 ISO
ISS		 ClinVar Annotator: match by term: RS1-related condition
OMIM:312700		 OMIM
ClinVar
MouseDO		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:37,771,135...37,800,894
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G M Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO
IAGP		 ClinVar Annotator: match by term: RS1-related condition
OMIM:312700		 OMIM
ClinVar
MouseDO		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:159,548,815...159,584,800
Ensembl chr  X:159,551,009...159,582,659 		JBrowse link
G H RS1 retinoschisin 1 IAGP
ISS		 ClinVar Annotator: match by term: RS1-related condition
OMIM:312700		 OMIM
ClinVar
MouseDO		 PMID:9618178 PMID:9760195 PMID:10533068 PMID:10589241 PMID:12417531 More... NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        retinal disease 15895
          retinal degeneration 9924
            retinoschisis 29
              X-linked juvenile retinoschisis 1 19
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              retinal disease 15895
                retinal degeneration 9924
                  retinoschisis 29
                    X-linked juvenile retinoschisis 1 19
paths to the root