Term Name: | benign familial hematuria |
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Synonyms: | BFH, thin basement membrane nephropathy, thin membrane nephropathy, TMN |
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. |
Ontology: | Human Disease [DOID:0111365] ( DOID:0111365 ) |