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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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:605724
ClinVar Annotator: match by term: Fanconi anemia complementation group D1		 CTD
MouseDO
ClinVar
OMIM		 PMID:1234 PMID:184056 PMID:251866 PMID:278235 PMID:668580 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital hypoplastic anemia 237
        Fanconi anemia 83
          Fanconi anemia complementation group D1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          bone marrow disease 776
            Bone Marrow Failure Disorders 311
              aplastic anemia 285
                congenital hypoplastic anemia 237
                  Fanconi anemia 83
                    Fanconi anemia complementation group D1 1
paths to the root