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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 7
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Accession:DOID:0080388 term browser browse the term
Definition:A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. (DO)
Synonyms:exact_synonym: Ig-mediated MPGN;   Ig-mediated membranoproliferative glomerulonephritis;   Immunoglobulin-mediated MPGN;   NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS;   NPHS7;   immunoglobulin-mediated membranoproliferative glomerulonephritis;   nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis
 narrow_synonym: AHUS, SUSCEPTIBILITY TO, 7;   AHUS7;   NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
 primary_id: OMIM:615008
 alt_id: DOID:9007967;   RDO:9000609
 xref: ORDO:329903
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nephrotic syndrome type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dgke diacylglycerol kinase epsilon JBrowse link 10 76,375,981 76,408,224 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      nephrotic syndrome 109
        familial nephrotic syndrome 36
          nephrotic syndrome type 7 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Urogenital Diseases 3965
        urinary system disease 2036
          kidney disease 1824
            nephritis 417
              glomerulonephritis 365
                mesangial proliferative glomerulonephritis 49
                  Chronic Mesangial Proliferative Glomerulonephritis 41
                    membranoproliferative glomerulonephritis 39
                      nephrotic syndrome type 7 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.