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Metadata
ID DOID:0060911
Name karyomegalic interstitial nephritis
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.
https://www.ncbi.nlm.nih.gov/pubmed/16678356, https://www.ncbi.nlm.nih.gov/pubmed/22772369
Xrefs

GARD:11003

ICD10CM:N11.8

OMIM:614817

ORDO:401996

Synonyms

KIN [EXACT]

KMIN [EXACT]

Parent Relationships

is_a interstitial nephritis

is_a autosomal recessive disease

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