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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 D1
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Accession:DOID:0111089 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. (DO)
Synonyms:exact_synonym: FAD1;   FANCD1
 primary_id: MESH:C563980
 alt_id: OMIM:605724
 xref: NCI:C125705
For additional species annotation, visit the Alliance of Genome Resources.



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Fanconi anemia complementation group D1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar
PMID:1234 PMID:1232165 PMID:1843150 PMID:1990134 PMID:2928257 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital hypoplastic anemia 295
        Fanconi anemia 222
          Fanconi anemia complementation group D1 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          bone marrow disease 786
            Bone Marrow Failure Disorders 356
              aplastic anemia 344
                congenital hypoplastic anemia 295
                  Fanconi anemia 222
                    Fanconi anemia complementation group D1 1
paths to the root