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General Information
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| Term |
autosomal dominant tubulointerstitial kidney disease 1 |
ID (Ontology) |
DOID:0061122 (Human Disease) |
| 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. |
| Also Known As |
"ADMCKD2" ; "autosomal dominant medullary cystic kidney disease 2" ; "familial juvenile gouty nephropathy" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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Relationships