Term Name: nephronophthisis
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).
Ontology: Human Disease [DOID:12712]   ( DOID:12712 )

Relationships
is a type of: autosomal recessive disease kidney disease
has subtype: nephronophthisis 1 nephronophthisis 2 nephronophthisis 3 nephronophthisis 4 nephronophthisis 7 nephronophthisis 9 nephronophthisis 11 nephronophthisis 12 nephronophthisis 13 nephronophthisis 14 nephronophthisis 15 nephronophthisis 16 nephronophthisis 18 nephronophthisis 19 nephronophthisis 20 nephronophthisis-like nephropathy 1