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General Information
ZIRC
OBO ID: DOID:12712
Term Name: nephronophthisis Search Ontology:
Synonyms:
  • medullary cystic disease
  • medullary cystic kidney
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/
References:
  • GARD:206
  • ICD10CM:Q61.5
  • ICD9CM_2006:753.16
  • NCI:C123200
  • OMIM:PS256100
  • ORDO:655
  • UMLS_CUI:C0687120
Ontology: Human Disease   (DOID:12712)
OTHER nephronophthisis PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (4)