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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 18
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Accession:DOID:0080393 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: NPHS18
 primary_id: OMIM:618177
 alt_id: DOID:9009248
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nephrotic syndrome type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup133 nucleoporin 133 JBrowse link 19 56,681,965 56,731,404 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      nephrotic syndrome 109
        familial nephrotic syndrome 36
          nephrotic syndrome type 18 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 18 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.