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ONTOLOGY REPORT - ANNOTATIONS


Term:cystinuria
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Accession:DOID:9266 term browser browse the term
Definition:An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
Synonyms:exact_synonym: CSNU;   CSNU1;   CSNU3;   cystinurias
 narrow_synonym: CYSTINURIA, TYPE B;   CYSTINURIA, TYPE I;   CYSTINURIA, TYPE II;   Cystinuria, type I - A;   Cystinuria, type II - A;   cystinuria type 1;   cystinuria, type A;   cystinuria, type A-B;   cystinuria, type A/B;   cystinuria, type II - B;   cystinuria, type III;   cystinuria, type NON-I
 primary_id: MESH:D003555
 alt_id: DOID:9000188;   DOID:9005650;   MESH:C531664;   MESH:C565652;   OMIA:000256;   OMIA:001879;   OMIA:001880;   OMIM:220100;   RDO:0000094;   RDO:0000095;   RDO:0014233
 xref: GARD:6237;   ICD10CM:E72.01;   NCI:C84664;   ORDO:214
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cystinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep89 centrosomal protein 89 JBrowse link 1 91,663,723 91,705,979 RGD:8554872
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:8554872
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:1600015
RGD:8554872
RGD:7240710
G Slc7a9 solute carrier family 7 member 9 JBrowse link 1 91,709,034 91,738,492 RGD:737767
RGD:8554872
RGD:7240710
hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B JBrowse link 6 8,219,385 8,280,127 RGD:11554173
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:11554173
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Urogenital Diseases 3998
        urinary system disease 2036
          ureteral disease 132
            cystinuria 6
              hypotonia-cystinuria syndrome 4
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            renal tubular transport disease 88
              Renal Aminoacidurias 11
                cystinuria 6
                  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.