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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 2
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Accession:DOID:9003097 term browser browse the term
Definition:A benign familial hematuria caused by heterozygous mutation in the COL4A3 gene on chromosome 2q36.
Synonyms:exact_synonym: BFH2
 primary_id: MIM:620320


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Benign Familial Hematuria 2 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, 2 OMIM
ClinVar		 PMID:8083201 PMID:25741868 PMID:29987460 PMID:33854215 NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15399
    Pathological Conditions, Signs and Symptoms 12081
      Pathologic Processes 7610
        Hemorrhage 282
          Hematuria 17
            benign familial hematuria 8
              Benign Familial Hematuria 2 1
Path 2
Term Annotations click to browse term
  disease 15399
    Developmental Disease 13447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12530
        genetic disease 12236
          monogenic disease 10480
            autosomal genetic disease 10026
              autosomal dominant disease 6502
                benign familial hematuria 8
                  Benign Familial Hematuria 2 1
paths to the root