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nephronophthisis 16

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.
Uniprot Description A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis.
Disease Ontology Description A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22.
Mondo Term and Equivalent IDs
MONDO:0014158:  nephronophthisis 16
SCTID:444558002: 
UMLS:C3809320: