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ONTOLOGY REPORT - ANNOTATIONS


Term:CAKUT2
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Accession:DOID:0080207 term browser browse the term
Definition:A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. (DO)
Synonyms:exact_synonym: Congenital anomalies of the kidney and urinary tract 2;   Hydronephrosis Due To Pujo;   MCRD;   Multicystic Renal Dysplasia, Bilateral;   PUJO;   Pelvi-ureteric junction obstruction;   Pelviureteric Junction Obstruction;   UPJO;   URETEROPELVIC JUNCTION OBSTRUCTION;   congenital anomalies of kidney and urinary tract 2
 primary_id: MESH:C537373
 alt_id: OMIM:143400;   RDO:0003205
For additional species annotation, visit the Alliance of Genome Resources.


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CAKUT2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13446406
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204792
G Tbx18 T-box transcription factor 18 JBrowse link 8 95,359,354 95,387,363 RGD:8554872
RGD:7240710
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204792

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          CAKUT2 4
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Urogenital Diseases 3965
        urinary system disease 2036
          ureteral disease 132
            vesicoureteral reflux 33
              CAKUT 19
                CAKUT2 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.