Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
KIN [EXACT] KMIN [EXACT] |
Parent Relationships |