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Disease Ontology Browser
nephronophthisis (DOID:12712)
Synonyms: medullary cystic disease; medullary cystic kidney
Alt IDs: OMIM:256100, OMIM:602088, OMIM:604387, OMIM:606966, OMIM:611498, OMIM:613159, OMIM:613550, OMIM:613820, OMIM:613824, OMIM:614377, OMIM:614844, OMIM:614845, OMIM:615382, OMIM:615862, OMIM:616217, ICD10CM:Q61.5, NCI:C123200, ORDO:655, UMLS_CUI:C0687120
Definition: An autosomal recessive 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 (6)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory