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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;   cystinurias
 narrow_synonym: 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;   OMIA:000256;   OMIA:001879;   OMIA:001880;   OMIM:220100
 xref: GARD:6237;   ICD10CM:E72.01;   NCI:C84664;   ORDO:214
For additional species annotation, visit the Alliance of Genome Resources.

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cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:12097257 PMID:12491499 PMID:12672316 PMID:16615107 PMID:16644204 PMID:16777318 PMID:24504028 PMID:25741868 PMID:25823446 PMID:26187060 PMID:26295337 PMID:26467025 PMID:28477318 PMID:29446198 PMID:29470806 PMID:30209399 PMID:30702160 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G CENPF centromere protein F ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr 7:12,558,455...12,618,637
Ensembl chr 7:12,555,143...12,617,996 		JBrowse link
G CEP89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:119,124,042...119,197,394
Ensembl chr 1:119,123,933...119,197,338 		JBrowse link
G PREPL prolyl endopeptidase like ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 PMID:11260385 PMID:11748844 PMID:12820697 PMID:15635077 PMID:16374432 PMID:20517292 PMID:21677404 PMID:22493502 PMID:22796000 PMID:23532419 PMID:24033266 PMID:24610330 PMID:25109415 PMID:25741868 PMID:25964309 PMID:26537754 PMID:28492532 PMID:28646536 PMID:28717662 PMID:32133030 NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 susceptibility IEA
ISO		 Cystinuria, type I - A
Cystinuria, type II - A
DNA:missense mutations		 OMIA
OMIM
RGD		 PMID:7493896 PMID:8054986 PMID:8334504 PMID:8334506 PMID:8334507 PMID:10028158 PMID:11129328 PMID:16566266 PMID:16845473 PMID:24001348 RGD:1600015 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 IEA
ISO		 Cystinuria, type II - B OMIA
OMIM		 PMID:24001348 NCBI chr 1:119,205,833...119,229,054
Ensembl chr 1:119,205,833...119,229,054 		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 CTD PMID:26247364 NCBI chr10:46,792,795...47,185,951
Ensembl chr10:46,792,936...47,185,416 		JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,590,110...46,680,792
Ensembl chr10:46,590,079...46,665,866 		JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,733,769...46,792,465
Ensembl chr10:46,726,676...46,792,405 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr10:46,690,555...46,737,417
Ensembl chr10:46,685,137...46,737,147 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13584
    disease of anatomical entity 13246
      Urogenital Diseases 3704
        urinary system disease 1677
          ureteral disease 148
            cystinuria 8
              hypotonia-cystinuria syndrome 4
Path 2
Term Annotations click to browse term
  disease 13584
    Developmental Disease 10017
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8352
        genetic disease 7908
          inherited metabolic disorder 2133
            renal tubular transport disease 89
              Renal Aminoacidurias 13
                cystinuria 8
                  hypotonia-cystinuria syndrome 4
paths to the root