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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872
G Mtmr10 myotubularin related protein 10 JBrowse link 1 125,124,743 125,175,857 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          karyomegalic interstitial nephritis 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      Urogenital Diseases 3916
        urinary system disease 2007
          kidney disease 1799
            nephritis 412
              interstitial nephritis 41
                karyomegalic interstitial nephritis 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.