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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: DOID:9005650;   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.


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 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 chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:30311386 NCBI chr 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700
JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:91,663,723...91,705,979
Ensembl chr 1:91,663,736...91,706,094
JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cystinuria
ClinVar PMID:7573036, PMID:8054986, PMID:8792820, PMID:9768685, PMID:10620184, PMID:11260385, PMID:11748844, PMID:15635077, PMID:20517292, PMID:21677404, PMID:22493502, PMID:22796000, PMID:23532419, PMID:24033266, PMID:24610330, PMID:25741868, PMID:25964309, PMID:26537754, PMID:28492532, PMID:28646536, PMID:28717662 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:18716613, PMID:27247962, PMID:28492532, PMID:30311386 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
PMID:7539209, PMID:7573036, PMID:8054986, PMID:8731106, PMID:8792820, PMID:9083097, PMID:9186880, PMID:9648062, PMID:9719865, PMID:9768685, PMID:10620184, PMID:11260385, PMID:11748844, PMID:12036192, PMID:12234283, PMID:12820697, PMID:14531788, PMID:14991253, PMID:15635077, PMID:15691362, PMID:16138908, PMID:16225397, PMID:17010017, PMID:17880288, PMID:18332091, PMID:18414213, PMID:18704508, PMID:18947684, PMID:19782624, PMID:20517292, PMID:21255007, PMID:21488254, PMID:21677404, PMID:22480232, PMID:22493502, PMID:22796000, PMID:23007880, PMID:23532419, PMID:24033266, PMID:24215330, PMID:24610330, PMID:25109415, PMID:25296721, PMID:25741868, PMID:25964309, PMID:26537754, PMID:28166740, PMID:28492532, PMID:28646536, PMID:28717662, PMID:28893421, PMID:30146843, PMID:8054986 RGD:1600015 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: Cystine urolithiasis
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
PMID:6031738, PMID:10471498, PMID:11013083, PMID:11157794, PMID:11260385, PMID:11748844, PMID:12036192, PMID:12234283, PMID:12234930, PMID:12239244, PMID:12371955, PMID:12820697, PMID:15635077, PMID:15670723, PMID:16138908, PMID:16225397, PMID:16374432, PMID:16834950, PMID:16838140, PMID:17539912, PMID:18414213, PMID:19782624, PMID:21255007, PMID:21677404, PMID:21681106, PMID:22480232, PMID:23532419, PMID:24033266, PMID:25109415, PMID:25296721, PMID:25599739, PMID:25741868, PMID:25964309, PMID:26123750, PMID:28492532, PMID:28646536, PMID:28717662, PMID:28812535, PMID:30311386, PMID:10471498 RGD:737767 NCBI chr 1:91,709,034...91,738,492
Ensembl chr 1:91,716,383...91,738,494
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 chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,219,385...8,280,127
Ensembl chr 6:8,218,696...8,280,124
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        urinary system disease 2075
          ureteral disease 142
            cystinuria 9
              hypotonia-cystinuria syndrome 4
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            renal tubular transport disease 93
              Renal Aminoacidurias 14
                cystinuria 9
                  hypotonia-cystinuria syndrome 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.