nephronophthisis
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).
Xref MGI. OMIM mapping confirmed by DO. [SN].
Also appears inbao
Exact Synonyms
medullary cystic disease
medullary cystic kidney
class Information
has_dbxref
- GARD:206
- ICD10CM:Q61.5
- MIM:PS256100
- NCI:C123200
- Nephronophthisisordo
- SNOMEDCT_US_2023_03_01:204958008
- UMLS_CUI:C0687120
has_obo_namespace
disease_ontology
in_subset