OBO ID: DOID:0060911
Term Name: karyomegalic interstitial nephritis Search Ontology:
Synonyms:
  • KIN
  • KMIN
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. (2)
References:
Ontology: Human Disease   ( DOID:0060911 )
OTHER karyomegalic interstitial nephritis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FAN1 Interstitial nephritis, karyomegalic 614817
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None