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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: 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;   OMIA:000256;   OMIA:001879;   OMIA:001880;   OMIM:220100
 xref: EFO:0010826;   GARD:6237;   ICD10CM:E72.01;   NCI:C84664;   ORDO:214



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 chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112
JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 More... NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO
ISS
DNA:missense mutations
CTD Direct Evidence: marker/mechanism
OMIM:220100
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO
ISS
DNA:missense mutations, nonsense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:220100
ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... RGD:737767 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:606407
CTD
MouseDO
PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          amino acid metabolic disorder 1524
            cystinuria 7
              hypotonia-cystinuria syndrome 4
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      Urogenital Diseases 5192
        urinary system disease 2800
          kidney disease 2556
            renal tubular transport disease 133
              Renal Aminoacidurias 11
                cystinuria 7
                  hypotonia-cystinuria syndrome 4
paths to the root