FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term benign familial hematuria ID (Ontology) DOID:0111365 (Human Disease)
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.
Also Known As "BFH" ; "thin basement membrane nephropathy" ; "thin membrane nephropathy" (for all, see Synonyms field below)
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 Genes
 benign familial hematuria       2
 for disease ribbon | benign familial hematuria       2
 model of | benign familial hematuria       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease of anatomical entity    |
 |__urinary system disease______|
                                benign familial hematuria  2 rec.
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Is a autosomal dominant disease
urinary system disease
Part of
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Synonyms
  • "BFH" EXACT OMO:0003012
    "thin basement membrane nephropathy" EXACT
    "thin membrane nephropathy" EXACT
    "TMN" EXACT OMO:0003012
Secondary IDs
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MIM:141200