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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 8
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Accession:DOID:0080389 term browser browse the term
Definition:A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: NPHS8
 primary_id: OMIM:615244
 alt_id: DOID:9002261;   RDO:9000879
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nephrotic syndrome type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgdia Rho GDP dissociation inhibitor alpha JBrowse link 10 109,754,012 109,757,506 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 8 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 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.