|  Help  |  About  |  Contact Us

DO Term : nephronophthisis [DOID:12712] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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).
  • synonyms:
  • medullary cystic kidney,
  • ICD10CM:Q61.5,
  • UMLS_CUI:C0687120,
  • PS256100,
  • OMIM:PS256100,
  • medullary cystic disease,
  • ORDO:655,
  • SNOMEDCT_US_2023_03_01:204958008,
  • NCI:C123200,
  • GARD:206
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents