| Metadata | |
|---|---|
| ID | DOID:12712 |
| Name | nephronophthisis |
| Definition | A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:204958008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
medullary cystic disease [EXACT] medullary cystic kidney [EXACT] |
| Parent Relationships |
is_a kidney disease |