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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome
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Accession:DOID:1184 term browser browse the term
Definition:A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Synonyms:exact_synonym: Nephrotic Syndromes
 narrow_synonym: NEPHROTIC RANGE PROTEINURIA
 primary_id: MESH:D009404
 alt_id: RDO:0001498
 xref: ICD9CM:581;   NCI:C34845
For additional species annotation, visit the Alliance of Genome Resources.


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nephrotic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acat1 acetyl-CoA acetyltransferase 1 JBrowse link NW_004955412 10,350,088 10,369,806 RGD:9068941
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
G Alox5 arachidonate 5-lipoxygenase JBrowse link NW_004955546 2,495,226 2,550,909 RGD:9068941
G Apoa1 apolipoprotein A1 JBrowse link NW_004955412 18,170,331 18,172,298 RGD:9068941
G Apob apolipoprotein B JBrowse link NW_004955469 3,437,422 3,478,408 RGD:9068941
G Apoc2 apolipoprotein C2 JBrowse link NW_004955555 2,019,547 2,021,543 RGD:9068941
G Apoc3 apolipoprotein C3 JBrowse link NW_004955412 18,165,667 18,168,015 RGD:9068941
G Apoe apolipoprotein E JBrowse link NW_004955555 1,998,170 2,002,003 RGD:9068941
G Axdnd1 axonemal dynein light chain domain containing 1 JBrowse link NW_004955406 18,717,383 18,859,263 RGD:9068941
G Bglap bone gamma-carboxyglutamate protein JBrowse link NW_004955545 2,381,091 2,382,114 RGD:9068941
G Cd2 CD2 molecule JBrowse link NW_004955435 19,861,658 19,876,383 RGD:9068941
G Cfl1 cofilin 1 JBrowse link NW_004955422 19,479,181 19,482,571 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
G Col4a1 collagen type IV alpha 1 chain JBrowse link NW_004955404 2,196,193 2,327,324 RGD:9068941
G Col4a2 collagen type IV alpha 2 chain JBrowse link NW_004955404 2,092,184 2,178,079 RGD:9068941
G Cpb2 carboxypeptidase B2 JBrowse link NW_004955518 3,740,348 3,803,540 RGD:9068941
G Ddc dopa decarboxylase JBrowse link NW_004955456 3,513,779 3,582,851 RGD:9068941
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link NW_004955454 2,933,904 2,944,675 RGD:9068941
G Ece1 endothelin converting enzyme 1 JBrowse link NW_004955452 1,653,783 1,704,619 RGD:9068941
G Ednra endothelin receptor type A JBrowse link NW_004955428 3,062,303 3,114,761 RGD:9068941
G Epo erythropoietin JBrowse link NW_004955573 203,875 206,078 RGD:9068941
G F3 coagulation factor III, tissue factor JBrowse link NW_004955423 254,060 264,448 RGD:9068941
G Fat1 FAT atypical cadherin 1 JBrowse link NW_004955403 22,502,625 22,618,513 RGD:9068941
G Fgf2 fibroblast growth factor 2 JBrowse link NW_004955428 17,840,554 17,894,779 RGD:9068941
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link NW_004955467 10,333,537 10,347,488 RGD:9068941
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial JBrowse link NW_004955431 17,291,890 17,363,611 RGD:9068941
G Gpc5 glypican 5 JBrowse link NW_004955404 16,824,366 18,091,464 RGD:9068941
G Gpx3 glutathione peroxidase 3 JBrowse link NW_004955408 2,622,162 2,629,088 RGD:9068941
G Guca2b guanylate cyclase activator 2B JBrowse link NW_004955537 1,798,249 1,801,673 RGD:9068941
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link NW_004955484 9,206,681 9,212,356 RGD:9068941
G Igfals insulin like growth factor binding protein acid labile subunit JBrowse link NW_004955442 15,469,602 15,482,115 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Il2 interleukin 2 JBrowse link NW_004955428 18,163,010 18,168,157 RGD:9068941
G Il4 interleukin 4 JBrowse link NW_004955408 4,058,052 4,065,999 RGD:9068941
G Il5 interleukin 5 JBrowse link NW_004955408 3,937,128 3,951,784 RGD:9068941
G Jak2 Janus kinase 2 JBrowse link NW_004955434 9,227,897 9,341,208 RGD:9068941
G Kcnj1 potassium inwardly rectifying channel subfamily J member 1 JBrowse link NW_004955412 29,801,022 29,832,153 RGD:9068941
G Lama5 laminin subunit alpha 5 JBrowse link NW_004955528 1,713,110 1,753,374 RGD:9068941
G Lamb2 laminin subunit beta 2 JBrowse link NW_004955532 1,115,412 1,127,264 RGD:9068941
G Lipc lipase C, hepatic type JBrowse link NW_004955450 15,947,869 16,062,449 RGD:9068941
G LOC102021956 alpha-2-macroglobulin JBrowse link NW_004955413 6,019,457 6,062,366 RGD:9068941
G Nck1 NCK adaptor protein 1 JBrowse link NW_004955501 1,867,956 1,963,091 RGD:9068941
G Nck2 NCK adaptor protein 2 JBrowse link NW_004955470 10,487,962 10,593,046 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004955455 13,797,557 13,978,402 RGD:9068941
G Nphs1 NPHS1 adhesion molecule, nephrin JBrowse link NW_004955468 2,715,728 2,734,174 RGD:9068941
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link NW_004955406 18,862,054 18,885,214 RGD:9068941
G Nr3c1 nuclear receptor subfamily 3 group C member 1 JBrowse link NW_004955415 10,494,704 10,585,778 RGD:9068941
G Pla2g7 phospholipase A2 group VII JBrowse link NW_004955437 11,534,251 11,577,942 RGD:9068941
G Plce1 phospholipase C epsilon 1 JBrowse link NW_004955507 555,570 825,568 RGD:9068941
G Ppargc1a PPARG coactivator 1 alpha JBrowse link NW_004955480 543,397 1,188,376 RGD:9068941
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link NW_004955406 25,077,988 25,086,259 RGD:9068941
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link NW_004955413 4,000,083 4,023,596 RGD:9068941
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link NW_004955493 1,937,507 1,956,248 RGD:9068941
G Serpinc1 serpin family C member 1 JBrowse link NW_004955406 14,024,183 14,036,206 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
G Smad1 SMAD family member 1 JBrowse link NW_004955428 1,357,398 1,429,521 RGD:9068941
G Soat2 sterol O-acyltransferase 2 JBrowse link NW_004955458 383,123 394,003 RGD:9068941
G Sod2 superoxide dismutase 2 JBrowse link NW_004955439 21,209,101 21,223,538 RGD:9068941
G Tfpi tissue factor pathway inhibitor JBrowse link NW_004955403 10,925,155 11,004,229 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Tnfrsf11b TNF receptor superfamily member 11b JBrowse link NW_004955417 24,804,708 24,831,338 RGD:9068941
G Trpc6 transient receptor potential cation channel subfamily C member 6 JBrowse link NW_004955412 4,905,039 5,019,678 RGD:9068941
G Vldlr very low density lipoprotein receptor JBrowse link NW_004955434 7,013,092 7,050,103 RGD:9068941
G Wt1 WT1 transcription factor JBrowse link NW_004955476 10,464,688 10,504,473 RGD:9068941
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctns cystinosin, lysosomal cystine transporter JBrowse link NW_004955467 13,151,663 13,169,005 RGD:7240710
G Shpk sedoheptulokinase JBrowse link NW_004955467 13,169,072 13,209,585 RGD:9068941
G Trpv1 transient receptor potential cation channel subfamily V member 1 JBrowse link NW_004955467 13,221,391 13,239,089 RGD:9068941
Diffuse Mesangial Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb2 laminin subunit beta 2 JBrowse link NW_004955532 1,115,412 1,127,264 RGD:9068941
G Plce1 phospholipase C epsilon 1 JBrowse link NW_004955507 555,570 825,568 RGD:9068941
familial nephrotic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link NW_004955442 12,476,055 12,487,613 RGD:9068941
G Kirrel2 kirre like nephrin family adhesion molecule 2 JBrowse link NW_004955468 2,705,131 2,712,921 RGD:9068941
G Nphs1 NPHS1 adhesion molecule, nephrin JBrowse link NW_004955468 2,715,728 2,734,174 RGD:9068941
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link NW_004955406 18,862,054 18,885,214 RGD:9068941
G Wt1 WT1 transcription factor JBrowse link NW_004955476 10,464,688 10,504,473 RGD:9068941
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga3 integrin subunit alpha 3 JBrowse link NW_004955451 11,563,120 11,590,119 RGD:7240710
lipoid nephrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1a cyclin dependent kinase inhibitor 1A JBrowse link NW_004955437 6,254,638 6,261,278 RGD:9068941
G Il13 interleukin 13 JBrowse link NW_004955408 4,046,406 4,049,795 RGD:9068941
G Il17a interleukin 17A JBrowse link NW_004955411 5,896,435 5,899,911 RGD:9068941
G Lgals1 galectin 1 JBrowse link NW_004955413 24,072,086 24,075,452 RGD:9068941
G Lmx1b LIM homeobox transcription factor 1 beta JBrowse link NW_004955419 1,782,566 1,857,375 RGD:9068941
G Nr3c1 nuclear receptor subfamily 3 group C member 1 JBrowse link NW_004955415 10,494,704 10,585,778 RGD:9068941
G Stat6 signal transducer and activator of transcription 6 JBrowse link NW_004955458 4,833,417 4,847,956 RGD:9068941
nephrotic syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link NW_004955442 12,476,055 12,487,613 RGD:9068941
G Arhgdia Rho GDP dissociation inhibitor alpha JBrowse link NW_004955506 1,297,604 1,300,072 RGD:9068941
G Axdnd1 axonemal dynein light chain domain containing 1 JBrowse link NW_004955406 18,717,383 18,859,263 RGD:9068941
G Fat1 FAT atypical cadherin 1 JBrowse link NW_004955403 22,502,625 22,618,513 RGD:9068941
G Kirrel2 kirre like nephrin family adhesion molecule 2 JBrowse link NW_004955468 2,705,131 2,712,921 RGD:9068941
G Nphs1 NPHS1 adhesion molecule, nephrin JBrowse link NW_004955468 2,715,728 2,734,174 RGD:9068941
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link NW_004955406 18,862,054 18,885,214 RGD:9068941
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link NW_004955449 8,242,327 8,306,012 RGD:9068941
nephrotic syndrome type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emp2 epithelial membrane protein 2 JBrowse link NW_004955442 7,826,967 7,862,035 RGD:7240710
nephrotic syndrome type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup107 nucleoporin 107 JBrowse link NW_004955458 15,148,773 15,201,717 RGD:7240710
nephrotic syndrome type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup93 nucleoporin 93 JBrowse link NW_004955433 14,408,079 14,533,292 RGD:7240710
nephrotic syndrome type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup205 nucleoporin 205 JBrowse link NW_004955494 7,084,150 7,148,264 RGD:7240710
nephrotic syndrome type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgpl1 sphingosine-1-phosphate lyase 1 JBrowse link NW_004955437 20,489,641 20,547,105 RGD:7240710
nephrotic syndrome type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 JBrowse link NW_004955410 6,739,115 7,295,027 RGD:7240710
nephrotic syndrome type 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kank2 KN motif and ankyrin repeat domains 2 JBrowse link NW_004955495 2,168,992 2,173,581 RGD:7240710
nephrotic syndrome type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 JBrowse link NW_004955553 2,103,694 2,124,748 RGD:9068941
G Nup85 nucleoporin 85 JBrowse link NW_004955553 2,079,418 2,107,894 RGD:7240710
nephrotic syndrome type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup133 nucleoporin 133 JBrowse link NW_004955492 8,583,902 8,641,891 RGD:7240710
nephrotic syndrome type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup160 nucleoporin 160 JBrowse link NW_004955422 561,339 598,598 RGD:7240710
nephrotic syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa5 annexin A5 JBrowse link NW_004955428 18,873,782 18,907,955 RGD:9068941
G Avil advillin JBrowse link NW_004955458 5,499,392 5,523,463 RGD:9068941
G Axdnd1 axonemal dynein light chain domain containing 1 JBrowse link NW_004955406 18,717,383 18,859,263 RGD:9068941
G Col4a3 collagen type IV alpha 3 chain JBrowse link NW_004955453 7,261,278 7,351,414 RGD:9068941
G Col4a4 collagen type IV alpha 4 chain JBrowse link NW_004955453 7,405,167 7,524,038 RGD:9068941
G Col4a5 collagen type IV alpha 5 chain JBrowse link NW_004955490 7,168,725 7,409,655 RGD:9068941
G Crb2 crumbs cell polarity complex component 2 JBrowse link NW_004955419 4,604,883 4,626,675 RGD:9068941
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link NW_004955406 18,862,054 18,885,214 RGD:7240710
G Nr3c1 nuclear receptor subfamily 3 group C member 1 JBrowse link NW_004955415 10,494,704 10,585,778 RGD:9068941
G Nup205 nucleoporin 205 JBrowse link NW_004955494 7,084,150 7,148,264 RGD:9068941
G Nup93 nucleoporin 93 JBrowse link NW_004955433 14,408,079 14,533,292 RGD:9068941
G Pla2g7 phospholipase A2 group VII JBrowse link NW_004955437 11,534,251 11,577,942 RGD:9068941
G Plce1 phospholipase C epsilon 1 JBrowse link NW_004955507 555,570 825,568 RGD:9068941
G Trpc6 transient receptor potential cation channel subfamily C member 6 JBrowse link NW_004955412 4,905,039 5,019,678 RGD:9068941
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link NW_004955458 5,489,551 5,498,572 RGD:9068941
G Wt1 WT1 transcription factor JBrowse link NW_004955476 10,464,688 10,504,473 RGD:9068941
G Xpo5 exportin 5 JBrowse link NW_004955437 9,351,045 9,392,396 RGD:9068941
nephrotic syndrome type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d8b TBC1 domain family member 8B JBrowse link NW_004955490 9,195,294 9,277,858 RGD:7240710
Nephrotic Syndrome Type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avil advillin JBrowse link NW_004955458 5,499,392 5,523,463 RGD:7240710
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link NW_004955458 5,489,551 5,498,572 RGD:9068941
nephrotic syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Noc3l NOC3 like DNA replication regulator JBrowse link NW_004955507 827,994 858,941 RGD:9068941
G Plce1 phospholipase C epsilon 1 JBrowse link NW_004955507 555,570 825,568 RGD:7240710
nephrotic syndrome type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wt1 WT1 transcription factor JBrowse link NW_004955476 10,464,688 10,504,473 RGD:7240710
nephrotic syndrome type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb2 laminin subunit beta 2 JBrowse link NW_004955532 1,115,412 1,127,264 RGD:7240710
nephrotic syndrome type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpro protein tyrosine phosphatase receptor type O JBrowse link NW_004955413 12,019,026 12,248,026 RGD:7240710
nephrotic syndrome type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dgke diacylglycerol kinase epsilon JBrowse link NW_004955451 5,966,773 5,988,004 RGD:7240710
nephrotic syndrome type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgdia Rho GDP dissociation inhibitor alpha JBrowse link NW_004955506 1,297,604 1,300,072 RGD:7240710
nephrotic syndrome type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq8b coenzyme Q8B JBrowse link NW_004955578 615,820 635,488 RGD:7240710
Pierson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lamb2 laminin subunit beta 2 JBrowse link NW_004955532 1,115,412 1,127,264 RGD:7240710
Schimke immuno-osseous dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 JBrowse link NW_004955453 16,724,286 16,784,129 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11744
    syndrome 5226
      nephrotic syndrome 104
        Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
        Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
        Diffuse Mesangial Sclerosis 2
        Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 0
        Feigenbaum Bergeron Richardson Syndrome 0
        Hutterite Cerebroosteonephrodysplasia Syndrome 0
        Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
        Nephrotic Syndrome with Ocular Anomalies 0
        Pierson syndrome 1
        Schimke immuno-osseous dysplasia 1
        familial nephrotic syndrome + 38
        lipoid nephrosis 7
Path 2
Term Annotations click to browse term
  disease 11744
    disease of anatomical entity 11304
      Urogenital Diseases 3337
        urinary system disease 1491
          kidney disease 1305
            proteinuria 289
              nephrosis 213
                nephrotic syndrome 104
                  Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
                  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type 3
                  Diffuse Mesangial Sclerosis 2
                  Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 0
                  Feigenbaum Bergeron Richardson Syndrome 0
                  Hutterite Cerebroosteonephrodysplasia Syndrome 0
                  Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 1
                  Nephrotic Syndrome with Ocular Anomalies 0
                  Pierson syndrome 1
                  Schimke immuno-osseous dysplasia 1
                  familial nephrotic syndrome + 38
                  lipoid nephrosis 7
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.