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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 3
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Accession:DOID:0080382 term browser browse the term
Definition:A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: NPHS3;   early-onset nephrotic syndrome type 3
 primary_id: OMIM:610725
 alt_id: DOID:9001215;   RDO:0009454
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nephrotic syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Noc3l NOC3-like DNA replication regulator JBrowse link 1 257,469,538 257,498,844 RGD:8554872
G Plce1 phospholipase C, epsilon 1 JBrowse link 1 257,156,023 257,465,440 RGD:7240710
RGD:8554872

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 3 2
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
            proteinuria 519
              nephrosis 233
                nephrotic syndrome 109
                  familial nephrotic syndrome 36
                    nephrotic syndrome type 3 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.