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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


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:227646
ClinVar Annotator: match by term: Fanconi anemia complementation group D2		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 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:16199547 PMID:16280053 PMID:17436244 PMID:23285130 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 21128
    physical disorder 4950
      congenital hypoplastic anemia 237
        Fanconi anemia 83
          Fanconi anemia complementation group D2 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Hemic and Lymphatic Diseases 3854
        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 D2 2
paths to the root