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   new 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

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:Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
go back to main search page
Accession:DOID:9002714 term browser browse the term
Synonyms:exact_synonym: Cystinosis, Intermediate
 primary_id: MESH:C562683
 alt_id: OMIM:219900
 xref: EFO:0009049


show annotations for term's descendants           Sort by:
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPA aspartoacylase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr 9:47,338,435...47,361,974
Ensembl chr 9:47,343,120...47,360,914 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE OMIM
ClinVar		 PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chr 9:47,474,488...47,490,951
Ensembl chr 9:47,473,901...47,490,252 		JBrowse link
G SHPK sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr 9:47,445,969...47,486,756 JBrowse link
G TAX1BP3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr 9:47,492,371...47,497,298
Ensembl chr 9:47,493,069...47,497,203 		JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr 9:47,404,987...47,443,871
Ensembl chr 9:47,404,972...47,431,926 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10070
      nephrotic syndrome 172
        Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 6
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10130
            autosomal genetic disease 9337
              autosomal recessive disease 6472
                cystinosis 6
                  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 6
paths to the root