Benign Familial Hematuria
Disease ID: disease_node_18532
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| Dbxref | MIM:141200 |
|---|---|
| Subclassof | DOID_0050736, DOID_18 |
| Data Source | DOID |
| Synonyms | BFH, TMN, thin basement membrane nephropathy, thin membrane nephropathy |
| Doid Label | benign familial hematuria |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18532 |
| Doid Id | DOID_0111365 |
| Label | Benign Familial Hematuria |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Urinary System Disease(ID:disease_node_13863) (Disease)