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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: OMIM:300514
 xref: NCI:C125703
For additional species annotation, visit the Alliance of Genome Resources.



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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 null
ClinVar Annotator: match by term: Fanconi anemia, complementation group B
OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital hypoplastic anemia 116
        Fanconi anemia 48
          Fanconi anemia complementation group B 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          bone marrow disease 605
            Bone Marrow Failure Disorders 177
              aplastic anemia 165
                congenital hypoplastic anemia 116
                  Fanconi anemia 48
                    Fanconi anemia complementation group B 1
paths to the root