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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
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Accession:DOID:1064 term browser browse the term
Definition:A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. (DO)
Synonyms:exact_synonym: CTNS;   Cystine Diathesis;   Cystine Disease;   Cystine Storage Disease;   Cystine Storage Diseases;   Cystinoses;   Defect of Cystinosin;   cystine diatheses;   cystine diseases;   defect of lysosomal cystine transport protein;   nephropathic cystinoses;   nephropathic cystinosis
 narrow_synonym: CYSTINOSIS, ATYPICAL NEPHROPATHIC
 primary_id: MESH:D003554
 alt_id: OMIM:219800
 xref: GARD:6236;   NCI:C129932;   NCI:C2976;   ORDO:213
For additional species annotation, visit the Alliance of Genome Resources.


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cystinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter susceptibility
treatment		 ISO
ISS
IMP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis
OMIM:219750 | OMIM:219800 | OMIM:219900
DNA:missense mutation:cds:p.G339R (human)
human gene in a mouse model
DNA:deletion:exons, introns (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10068513 PMID:10444339 More... RGD:1601022, RGD:155630629, RGD:12910936, RGD:12910868, RGD:12910866, RGD:11064664, RGD:12910865 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Cystinosin, defect of ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis ClinVar PMID:24385851 NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
Abderhalden-Kaufmann-Lignac Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 More... NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name Qualifiers 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 chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		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 chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980 		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 chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		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 chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		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 chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
Cystinosis, Ocular Nonnephropathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO DNA:deletions, snps, missense mutation:multiple (human)
ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic		 OMIM
ClinVar
CTD
RGD		 PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... RGD:12910937 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
Infantile Nephropathic Cystinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Infantile nephropathic cystinosis ClinVar PMID:9537412 PMID:9792862 PMID:10556299 PMID:11562417 PMID:12204010 More... NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          lysosomal storage disease 995
            cystinosis 6
              Abderhalden-Kaufmann-Lignac Syndrome 4
              Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 6
              Cystinosis, Ocular Nonnephropathic 6
              Infantile Nephropathic Cystinosis 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                cystinosis 6
                  Abderhalden-Kaufmann-Lignac Syndrome 4
                  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 6
                  Cystinosis, Ocular Nonnephropathic 6
                  Infantile Nephropathic Cystinosis 1
paths to the root