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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 9
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Accession:DOID:0080391 term browser browse the term
Definition:A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: NPHS9
 primary_id: OMIM:615573
 alt_id: DOID:9005278;   RDO:9001000
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nephrotic syndrome type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq8b coenzyme Q8B JBrowse link 1 84,043,487 84,067,066 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 9 1
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 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.