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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
For additional species annotation, visit the Alliance of Genome Resources.


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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

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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
Term Annotations click to browse term
  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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