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nephronophthisis 12

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.
Uniprot Description An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects.
Disease Ontology Description A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
Mondo Term and Equivalent IDs
MONDO:0013442:  nephronophthisis 12
UMLS:C3151186: