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DO Term : karyomegalic interstitial nephritis [DOID:0060911] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • KMIN,
  • ICD10CM:N11.8,
  • KIN,
  • 614817,
  • GARD:11003,
  • OMIM:614817,
  • ORDO:401996
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