benign familial hematuria

Term ID

DOID:0111365

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. https://www.ncbi.nlm.nih.gov/pubmed/8787673

References

• OMIM:141200

Ontology

Human Disease   ( DOID:0111365 )