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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 11
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Accession:DOID:0080385 term browser browse the term
Definition:Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype. NPHS11 is caused by homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. (OMIM)
Synonyms:exact_synonym: NPHS11
 primary_id: OMIM:616730
 alt_id: DOID:9006881;   RDO:9000770
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nephrotic syndrome type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15619
    syndrome 5154
      nephrotic syndrome 109
        familial nephrotic syndrome 36
          nephrotic syndrome type 11 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 11 1
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