nephronophthisis

Term ID

DOID:12712

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_2023_03_01:204958008
• UMLS_CUI:C0687120

Ontology

Human Disease   ( DOID:12712 )