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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 metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
Synonyms:exact_synonym: CTNS;   Cystine Diathesis;   Cystine Disease;   Cystine Diseases;   Cystine Storage Disease;   Cystine Storage Diseases;   Cystinoses;   Defect of Cystinosin;   Defect of Cystinosins;   Lysosomal Cystine Transport Protein, Defect Of;   Nephropathic Cystinoses;   cystine diatheses;   nephropathic cystinosis
 narrow_synonym: CYSTINOSIN, DEFECT OF CYSTINOSIS, INFANTILE NEPHROPATHIC;   CYSTINOSIS, ATYPICAL NEPHROPATHIC
 primary_id: MESH:D003554
 alt_id: OMIM:219800;   RDO:0000092
 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 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Cystinosin, defect of
ClinVar Annotator: match by term: Nephropathic cystinosis
ClinVar Annotator: match by term: Cystinosis
DNA:missense mutation:cds:p.G339R (human)
human gene in a mouse model
DNA:deletion:exons, introns (human)
ClinVar Annotator: match by OMIM:219800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF
ClinVar Annotator: match by synonym: Cystinosis, atypical nephropathic
ClinVar
CTD
OMIM
PMID:9537412 PMID:9792862 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12644911 PMID:12825071 PMID:15128704 PMID:15365816 PMID:15879904 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19580442 PMID:19852576 PMID:19863563 PMID:21305353 PMID:21546516 PMID:21786142 PMID:21963264 PMID:22232659 PMID:22450360 PMID:22528245 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26489029 PMID:26565940 PMID:27102039 PMID:27451386 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28122645 PMID:28238446 PMID:28276207 PMID:28405942 PMID:28492532 PMID:28649545 PMID:28893421 PMID:29421779 PMID:29467429 PMID:30554218 PMID:30949462, PMID:9537412, PMID:11565547, PMID:12370309, PMID:18578013, PMID:9792862, PMID:10068513 RGD:1601022, RGD:12910936, RGD:12910868, RGD:12910866, RGD:11064664, RGD:12910865 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Nephropathic cystinosis ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Nephropathic cystinosis ClinVar NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Cystinosis
ClinVar Annotator: match by term: Nephropathic cystinosis
ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
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-Kaufmann-Lignac syndrome
ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease
ClinVar PMID:9537412 PMID:9792862 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12825071 PMID:15128704 PMID:15365816 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:21546516 PMID:21786142 PMID:22450360 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26565940 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28276207 PMID:28405942 PMID:28492532 PMID:28649545 PMID:28893421 PMID:29467429 PMID:30949462 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
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 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
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 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
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 Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar Annotator: match by OMIM:219900
OMIM
ClinVar
PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12825071 PMID:15128704 PMID:15365816 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:21546516 PMID:21786142 PMID:22450360 PMID:22664570 PMID:23640116 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26565940 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28276207 PMID:28405942 PMID:28492532 PMID:28649545 PMID:28893421 PMID:29467429 PMID:30949462 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
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:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
Cystinosis, Ocular Nonnephropathic 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: Cystinosis, benign, nonnephropathic
ClinVar Annotator: match by OMIM:219750
DNA:deletions, snps, missense mutation:multiple (human)
ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic
OMIM
ClinVar
PMID:9537412 PMID:9792862 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12825071 PMID:15128704 PMID:15365816 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:21546516 PMID:21786142 PMID:22450360 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26565940 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28276207 PMID:28405942 PMID:28492532 PMID:28649545 PMID:28893421 PMID:29467429 PMID:30949462, PMID:10625078 RGD:12910937 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        inherited metabolic disorder 2235
          lysosomal storage disease 531
            cystinosis 4
              Abderhalden-Kaufmann-Lignac Syndrome 4
              Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
              Cystinosis, Ocular Nonnephropathic 4
              Infantile Nephropathic Cystinosis 0
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                cystinosis 4
                  Abderhalden-Kaufmann-Lignac Syndrome 4
                  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
                  Cystinosis, Ocular Nonnephropathic 4
                  Infantile Nephropathic Cystinosis 0
paths to the root