| Metadata | |
|---|---|
| ID | DOID:0111365 |
| Name | benign familial hematuria |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/8787673 |
| Xrefs | |
| Synonyms |
BFH [EXACT] thin basement membrane nephropathy [EXACT] thin membrane nephropathy [EXACT] TMN [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |