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benign familial hematuria
Summary
- Synonym
-
- BFH
- TMN
- thin basement membrane nephropathy
- thin membrane nephropathy
- Definition
- A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3.
- Super Class
- autosomal dominant disease urinary system disease
External Links
- Disease Ontology
- DOID:0111365
- Mondo Disease Ontology
- OMIM
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