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Metadata
DOID DOID:12712
Name nephronophthisis
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).
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/
Xrefs

GARD:206

ICD10CM:Q61.5

ICD9CM_2006:753.16

NCI:C123200

OMIM:PS256100

ORDO:655

UMLS_CUI:C0687120

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

medullary cystic disease [EXACT]

medullary cystic kidney [EXACT]

Relationships

is_a autosomal recessive disease

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