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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 IAGP 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 chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G CENPF centromere protein F IAGP ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,195...214,664,571
JBrowse link
G CEP89 centrosomal protein 89 IAGP ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr19:32,875,925...32,972,024
Ensembl chr19:32,875,925...32,971,991
JBrowse link
G PREPL prolyl endopeptidase like IAGP 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 chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
JBrowse link
G SLC3A1 solute carrier family 3 member 1 susceptibility IAGP DNA:missense mutations
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: Cystine urolithiasis
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:16374432 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:32133030, PMID:8054986 RGD:1600015 NCBI chr 2:44,275,464...44,321,494
Ensembl chr 2:44,275,458...44,321,494
JBrowse link
G SLC7A9 solute carrier family 7 member 9 IAGP DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: Cystine urolithiasis
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:10471498 RGD:737767 NCBI chr19:32,830,511...32,870,957
Ensembl chr19:32,830,509...32,869,767
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 2:44,361,714...44,772,592
Ensembl chr 2:44,361,947...44,772,592
JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 2:44,168,853...44,247,330
Ensembl chr 2:44,167,969...44,244,384
JBrowse link
G PREPL prolyl endopeptidase like EXP CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
JBrowse link
G SLC3A1 solute carrier family 3 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 2:44,275,464...44,321,494
Ensembl chr 2:44,275,458...44,321,494
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19895
    disease of anatomical entity 18508
      Urogenital Diseases 4673
        urinary system disease 1908
          ureteral disease 151
            cystinuria 8
              hypotonia-cystinuria syndrome 4
Path 2
Term Annotations click to browse term
  disease 19895
    Developmental Disease 13326
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10569
        genetic disease 10051
          inherited metabolic disorder 2602
            renal tubular transport disease 114
              Renal Aminoacidurias 14
                cystinuria 8
                  hypotonia-cystinuria syndrome 4
paths to the root