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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
ClinVar Annotator: match by OMIM:227646
OMIM
ClinVar
PMID:11239453 PMID:16280053 PMID:17308347 PMID:17436244 PMID:21356188 PMID:22720145 PMID:22828868 PMID:23613520 PMID:24033266 PMID:24728327 PMID:25168418 PMID:25703294 PMID:25741868 PMID:27041517 PMID:28202063 PMID:28492532 PMID:32581362 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
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 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital hypoplastic anemia 109
        Fanconi anemia 43
          Fanconi anemia complementation group D2 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          bone marrow disease 480
            Bone Marrow Failure Disorders 169
              aplastic anemia 157
                congenital hypoplastic anemia 109
                  Fanconi anemia 43
                    Fanconi anemia complementation group D2 2
paths to the root