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Term:karyomegalic interstitial nephritis
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Accession:DOID:0060911 term browser browse the term
Definition:An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. (DO)
Synonyms:exact_synonym: KIN;   KMIN
 primary_id: OMIM:614817
 alt_id: RDO:9000492
 xref: GARD:11003;   ORDO:401996
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karyomegalic interstitial nephritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fan1 FANCD2 and FANCI associated nuclease 1 JBrowse link 1 125,182,117 125,209,772 RGD:7240710
G Mtmr10 myotubularin related protein 10 JBrowse link 1 125,124,743 125,175,857 RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          karyomegalic interstitial nephritis 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      Urogenital Diseases 3755
        urinary system disease 1990
          kidney disease 1786
            nephritis 412
              interstitial nephritis 40
                karyomegalic interstitial nephritis 2
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