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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 V
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Accession:DOID:0111080 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: FANCV;   Fanconi anemia of complementation group V
 primary_id: OMIM:617243



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Fanconi anemia complementation group V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group V
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:27500492 NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    physical disorder 4895
      congenital hypoplastic anemia 236
        Fanconi anemia 82
          Fanconi anemia complementation group V 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      Hemic and Lymphatic Diseases 3833
        hematopoietic system disease 3324
          bone marrow disease 769
            Bone Marrow Failure Disorders 310
              aplastic anemia 284
                congenital hypoplastic anemia 236
                  Fanconi anemia 82
                    Fanconi anemia complementation group V 1
paths to the root