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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 D2
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Accession:DOID:0111083 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: FA4;   FACD;   FAD2;   FANCD;   FANCD2;   Fanconi anemia, complementation group D;   Fanconi pancytopenia, type 4
 primary_id: OMIM:227646
 xref: NCI:C125706
For additional species annotation, visit the Alliance of Genome Resources.



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Fanconi anemia complementation group D2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 OMIM
ClinVar
PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:21356188 More... NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:11239453 PMID:16280053 PMID:17436244 PMID:23613520 PMID:24728327 More... NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital hypoplastic anemia 295
        Fanconi anemia 222
          Fanconi anemia complementation group D2 2
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Hemic and Lymphatic Diseases 3312
        hematopoietic system disease 2847
          bone marrow disease 794
            Bone Marrow Failure Disorders 356
              aplastic anemia 344
                congenital hypoplastic anemia 295
                  Fanconi anemia 222
                    Fanconi anemia complementation group D2 2
paths to the root