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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:benign familial hematuria
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Accession:DOID:0111365 term browser browse the term
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. (DO)
Synonyms:exact_synonym: BFH;   MICROSCOPIC HEMATURIA;   TMN;   Thin-Basement-Membrane Nephropathy;   familial hematuria;   thin membrane nephropathy
 primary_id: MESH:C562476
 alt_id: OMIM:141200
For additional species annotation, visit the Alliance of Genome Resources.


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benign familial hematuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Microscopic hematuria
ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by OMIM:141200		 ClinVar
OMIM
RGD		 PMID:11134255 PMID:11961012 PMID:24052634 PMID:25307543 PMID:25741868 More... RGD:7242047 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Benign familial hematuria
ClinVar Annotator: match by synonym: THIN MEMBRANE NEPHROPATHY		 ClinVar
OMIM
RGD		 PMID:8787673 PMID:9792860 PMID:11961012 PMID:12325029 PMID:12631110 More... RGD:7242047 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Familial hematuria
ClinVar Annotator: match by term: Microscopic hematuria		 ClinVar PMID:8648925 PMID:25741868 PMID:30311386 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Familial hematuria ClinVar NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:25741868 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Pathological Conditions, Signs and Symptoms 10273
      Pathologic Processes 6712
        Hemorrhage 263
          Hematuria 16
            benign familial hematuria 5
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            autosomal genetic disease 6319
              autosomal dominant disease 4482
                benign familial hematuria 5
paths to the root