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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 D1
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Accession:DOID:0111089 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. (DO)
Synonyms:exact_synonym: FAD1;   FANCD1
 primary_id: MESH:C563980
 alt_id: OMIM:605724
 xref: NCI:C125705


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Fanconi anemia complementation group D1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 breast cancer 2, early onset IAGP
ISO		 OMIM:605724
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group D1		 MouseDO
CTD
OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:251866 PMID:278235 PMID:668580 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    physical disorder 5000
      congenital hypoplastic anemia 236
        Fanconi anemia 83
          Fanconi anemia complementation group D1 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Hemic and Lymphatic Diseases 3775
        hematopoietic system disease 3272
          bone marrow disease 762
            Bone Marrow Failure Disorders 309
              aplastic anemia 283
                congenital hypoplastic anemia 236
                  Fanconi anemia 83
                    Fanconi anemia complementation group D1 1
paths to the root