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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 19
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Accession:DOID:0080394 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: NPHS19
 primary_id: OMIM:618178
 alt_id: DOID:9009249
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nephrotic syndrome type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup160 nucleoporin 160 JBrowse link 3 79,496,239 79,562,163 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      nephrotic syndrome 109
        familial nephrotic syndrome 37
          nephrotic syndrome type 19 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Urogenital Diseases 3981
        urinary system disease 2051
          kidney disease 1837
            proteinuria 524
              nephrosis 233
                nephrotic syndrome 109
                  familial nephrotic syndrome 37
                    nephrotic syndrome type 19 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.