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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 2
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Accession:DOID:0080379 term browser browse the term
Definition:A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. (DO)
Synonyms:exact_synonym: NPHS2;   Nephrotic Syndrome, Idiopathic, Steroid-Resistant;   Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive;   SRN1;   STEROID-RESISTANT NEPHROTIC SYNDROME
 related_synonym: Nephrotic Syndrome, Type 2, Susceptibility To
 primary_id: MESH:C536404
 alt_id: DOID:9006240;   OMIM:600995;   RDO:0001985;   RDO:9000676
For additional species annotation, visit the Alliance of Genome Resources.


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nephrotic syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:7242031
G Avil advillin JBrowse link 7 70,292,565 70,310,588 RGD:8554872
G Axdnd1 axonemal dynein light chain domain containing 1 JBrowse link 13 73,950,422 74,025,237 RGD:8554872
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:7240710
RGD:8554872
RGD:11554173
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:7174729
G Nup205 nucleoporin 205 JBrowse link 4 62,703,779 62,773,931 RGD:11554173
G Nup93 nucleoporin 93 JBrowse link 19 11,159,769 11,263,980 RGD:11554173
G Pla2g7 phospholipase A2 group VII JBrowse link 9 19,935,754 19,978,013 RGD:7248793
G Plce1 phospholipase C, epsilon 1 JBrowse link 1 257,156,023 257,465,440 RGD:7257521
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:7247446
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:8554872
G Xpo5 exportin 5 JBrowse link 9 17,125,201 17,163,170 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      nephrotic syndrome 109
        familial nephrotic syndrome 36
          nephrotic syndrome type 2 12
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Urogenital Diseases 3965
        urinary system disease 2039
          kidney disease 1826
            nephritis 418
              glomerulonephritis 365
                glomerulosclerosis 121
                  focal segmental glomerulosclerosis 107
                    nephrotic syndrome type 2 12
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.