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Metadata
ID DOID:0061122
Name autosomal dominant tubulointerstitial kidney disease 1
Definition An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12.
https://pubmed.ncbi.nlm.nih.gov/31488840/
Xrefs

MIM:162000

Synonyms

familial juvenile hyperuricemic nephropathy 1 [EXACT]

HNFJ1 [EXACT]

MCKD1 [EXACT]

medullary cystic kidney disease 1 [EXACT]

Parent Relationships

is_a autosomal dominant tubulointerstitial kidney disease

Subclass Logical Relationships

existence starts during some Adult onset

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