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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 chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital hypoplastic anemia 234
        Fanconi anemia 82
          Fanconi anemia complementation group J 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Hemic and Lymphatic Diseases 3704
        hematopoietic system disease 3221
          bone marrow disease 740
            Bone Marrow Failure Disorders 301
              aplastic anemia 275
                congenital hypoplastic anemia 234
                  Fanconi anemia 82
                    Fanconi anemia complementation group J 1
paths to the root