OBO ID: DOID:0111365
Term Name: benign familial hematuria Search Ontology:
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 COL4A3 or COL4A4 on chromosome 2q36.3. https://www.ncbi.nlm.nih.gov/pubmed/8787673
References:
Ontology: Human Disease   (DOID:0111365)
OTHER benign familial hematuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL4A3 Hematuria, benign familial 141200
COL4A4 Hematuria, familial benign 141200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None