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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:cystinuria
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Accession:DOID:9266 term browser browse the term
Definition:An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. (DO)
Synonyms:exact_synonym: CSNU;   CSNU1;   CSNU3;   SLC3A1-RELATED CONDITION;   cystinurias
 narrow_synonym: SLC7A9-RELATED CONDITION;   cystinuria type 1;   cystinuria type A;   cystinuria type A-B;   cystinuria type A/B;   cystinuria type B;   cystinuria type I;   cystinuria type I - A;   cystinuria type II;   cystinuria type II - A;   cystinuria type II - B;   cystinuria type III;   cystinuria type NON-I
 related_synonym: cystine urolithiasis
 primary_id: MESH:D003555
 alt_id: MESH:C531664;   MESH:C565652;   MIM:220100;   OMIA:000256;   OMIA:001879;   OMIA:001880
 xref: EFO:0010826;   GARD:6237;   ICD10CM:E72.01;   NCI:C84664;   ORDO:214

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show annotations for term's descendants           Sort by:
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chrNW_004624771:19,657,489...19,702,506
Ensembl chrNW_004624771:19,656,981...19,702,625 		JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chrNW_004624794:7,706,043...7,862,504
Ensembl chrNW_004624794:7,812,364...7,862,340
Ensembl chrNW_004624794:7,812,364...7,862,340 		JBrowse link
G Prepl prolyl endopeptidase like ISO ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC3A1-related condition ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 More... NCBI chrNW_004624738:25,802,156...25,835,663
Ensembl chrNW_004624738:25,802,793...25,834,762 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC3A1-related condition		 OMIM
RGD
ClinVar		 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chrNW_004624738:25,762,064...25,802,407
Ensembl chrNW_004624738:25,768,573...25,802,716 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC7A9-related condition OMIM
ClinVar		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... NCBI chrNW_004624794:7,761,511...7,792,473 JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chrNW_004624738:25,835,123...26,251,254
Ensembl chrNW_004624738:25,835,163...26,250,729 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,657,084...25,738,913
Ensembl chrNW_004624738:25,656,755...25,723,236 		JBrowse link
G Prepl prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,802,156...25,835,663
Ensembl chrNW_004624738:25,802,793...25,834,762 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chrNW_004624738:25,762,064...25,802,407
Ensembl chrNW_004624738:25,768,573...25,802,716 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    Nutritional and Metabolic Diseases 6954
      disease of metabolism 6954
        inherited metabolic disorder 5498
          amino acid metabolic disorder 1471
            cystinuria 7
              hypotonia-cystinuria syndrome 4
Path 2
Term Annotations click to browse term
  disease 14229
    disease of anatomical entity 13931
      Urogenital Diseases 4530
        urinary system disease 2211
          kidney disease 1991
            renal tubular transport disease 98
              Renal Aminoacidurias 11
                cystinuria 7
                  hypotonia-cystinuria syndrome 4
paths to the root