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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:Fanconi anemia complementation group J
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Accession:DOID:0111097 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. (DO)
Synonyms:exact_synonym: FANCJ
 narrow_synonym: BRIP1-related disorder
 primary_id: MESH:C563801
 alt_id: OMIM:609054
 xref: NCI:C129027


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Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRIP1 BRCA1 interacting helicase 1 susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group J OMIM
ClinVar		 PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      congenital hypoplastic anemia 231
        Fanconi anemia 81
          Fanconi anemia complementation group J 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Hemic and Lymphatic Diseases 3680
        hematopoietic system disease 3188
          bone marrow disease 736
            Bone Marrow Failure Disorders 299
              aplastic anemia 274
                congenital hypoplastic anemia 231
                  Fanconi anemia 81
                    Fanconi anemia complementation group J 1
paths to the root