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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 12
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Accession:DOID:0080387 term browser browse the term
Definition:An autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS). (OMIM)
Synonyms:exact_synonym: NPHS12
 primary_id: OMIM:616892
 alt_id: DOID:9004511;   RDO:9000365
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nephrotic syndrome type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup93 nucleoporin 93 JBrowse link 19 11,159,769 11,263,980 RGD:8554872
RGD:7240710

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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 12 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
            proteinuria 519
              nephrosis 233
                nephrotic syndrome 109
                  familial nephrotic syndrome 36
                    nephrotic syndrome type 12 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.