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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:Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
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Accession:DOID:9002714 term browser browse the term
Synonyms:exact_synonym: Cystinosis, Intermediate
 primary_id: MESH:C562683
 alt_id: MIM:219900
 xref: EFO:0009049

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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 chrNW_004936677:219,459...232,545 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 chrNW_004936677:342,964...360,890
Ensembl chrNW_004936677:343,042...360,879 		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 chrNW_004936677:314,328...342,892
Ensembl chrNW_004936677:314,294...342,855 		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 chrNW_004936677:361,300...367,234 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 chrNW_004936677:277,304...326,907
Ensembl chrNW_004936677:276,994...327,025 		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 chrNW_004936677:239,133...270,512
Ensembl chrNW_004936677:239,435...270,512 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14622
    syndrome 9908
      nephrotic syndrome 168
        Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 6
Path 2
Term Annotations click to browse term
  disease 14622
    Developmental Disease 12814
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12019
        genetic disease 11735
          monogenic disease 10081
            autosomal genetic disease 9674
              autosomal recessive disease 6575
                cystinosis 7
                  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 6
paths to the root