ZFIN Human Disease: benign familial hematuria

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 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 )

Relationships

is a type of:	autosomal dominant disease urinary system disease autosomal dominant disease urinary system disease Show first 5 Terms

OTHER benign familial hematuria PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL4A4	col4a4	Hematuria, familial benign, 1	141200

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None