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Disease Ontology Browser
nephronophthisis (DOID:12712)
Alliance: disease page
Synonyms: medullary cystic disease; medullary cystic kidney
Alt IDs: ICD10CM:Q61.5, ICD9CM_2006:753.16, NCI:C123200, OMIM:PS256100, ORDO:655, UMLS_CUI:C0687120
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).

Disease References using Mouse Models (12)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory