Search Ontology:
Human Disease
nephronophthisis
- Term ID
- DOID:12712
- Synonyms
-
- medullary cystic disease
- medullary cystic kidney
- 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/
- References
-
- GARD:206
- ICD10CM:Q61.5
- MIM:PS256100
- NCI:C123200
- ORDO:655
- SNOMEDCT_US_2023_03_01:204958008
- UMLS_CUI:C0687120
- Ontology
- Human Disease ( DOID:12712 )
- is a type of
-
- has subtype
Other Pages
Genes Involved
Zebrafish Models