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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 1
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Accession:DOID:9006352 term browser browse the term
Definition:A benign familial hematuria caused by heterozygous mutation in the COL4A4 gene on chromosome 2q36.
Synonyms:exact_synonym: BFH1
 broad_synonym: COL4A4-RELATED CONDITION
 primary_id: MIM:141200


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Benign Familial Hematuria 1 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: Hematuria, benign familial, 1 ClinVar PMID:25741868 NCBI chr 9:83,875,849...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: COL4A4-related condition
ClinVar Annotator: match by term: Hematuria, benign familial, 1		 OMIM
ClinVar		 PMID:8787673 PMID:9536098 PMID:9792860 PMID:11961012 PMID:12325029 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Pathological Conditions, Signs and Symptoms 13604
      Pathologic Processes 8260
        Hemorrhage 311
          Hematuria 21
            benign familial hematuria 7
              Benign Familial Hematuria 1 2
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10860
            autosomal genetic disease 10342
              autosomal dominant disease 6692
                benign familial hematuria 7
                  Benign Familial Hematuria 1 2
paths to the root