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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 B
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Accession:DOID:0111098 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: FA2;   FACB;   FANCB;   Fanconi pancytopenia type 2
 primary_id: MESH:C564497
 alt_id: MIM:300514
 xref: NCI:C125703


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Fanconi anemia complementation group B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More... NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    physical disorder 5180
      congenital hypoplastic anemia 301
        Fanconi anemia 107
          Fanconi anemia complementation group B 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Hemic and Lymphatic Diseases 4331
        hematopoietic system disease 3821
          anemia 861
            normocytic anemia 752
              aplastic anemia 349
                congenital hypoplastic anemia 301
                  Fanconi anemia 107
                    Fanconi anemia complementation group B 1
paths to the root