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ONTOLOGY REPORT - ANNOTATIONS


Term:Renal Aminoacidurias
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Accession:DOID:9002207 term browser browse the term
Definition:A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.
Synonyms:exact_synonym: AMINOACIDURIA;   Renal Aminoaciduria
 primary_id: MESH:D000608;   RDO:0001224
For additional species annotation, visit the Alliance of Genome Resources.


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Renal Aminoacidurias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cltrn collectrin, amino acid transport regulator JBrowse link X 32,118,082 32,153,687 RGD:8554872
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
dicarboxylic aminoaciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:7240710
RGD:8554872
G Spata6l spermatogenesis associated 6-like JBrowse link 1 247,037,004 247,088,124 RGD:8554872
GRACILE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
Hartnup disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a19 solute carrier family 6 member 19 JBrowse link 1 32,199,869 32,218,628 RGD:1600035
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 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        inherited metabolic disorder 1884
          renal tubular transport disease 88
            Renal Aminoacidurias 11
              GRACILE syndrome 1
              Hartnup disease 1
              Histidinuria Renal Tubular Defect 0
              Rowley-Rosenberg Syndrome 0
              cystinuria + 6
              dicarboxylic aminoaciduria 2
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      Urogenital Diseases 4016
        urinary system disease 2053
          kidney disease 1836
            renal tubular transport disease 88
              Renal Aminoacidurias 11
                GRACILE syndrome 1
                Hartnup disease 1
                Histidinuria Renal Tubular Defect 0
                Rowley-Rosenberg Syndrome 0
                cystinuria + 6
                dicarboxylic aminoaciduria 2
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.