OBO ID: DOID:12712
Term Name: nephronophthisis Search Ontology:
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
  • NCI:C123200
  • OMIM:PS256100
  • ORDO:655
  • SNOMEDCT_US_2022_03_01:204958008
  • 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)