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Fanconi anemia complementation group V - Ontology Report - Rat Genome Database

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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;   MAD2L2-RELATED CONDITION
 xref: MIM:617243;   MONDO:0014985

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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 | ClinVar Annotator: match by term: MAD2L2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27500492 PMID:28492532 NCBI chr 5:163,846,678...163,859,851
Ensembl chr 5:158,563,567...158,576,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    physical disorder 5202
      congenital hypoplastic anemia 304
        Fanconi anemia 108
          Fanconi anemia complementation group V 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Hemic and Lymphatic Diseases 4328
        hematopoietic system disease 3837
          anemia 865
            normocytic anemia 756
              aplastic anemia 352
                congenital hypoplastic anemia 304
                  Fanconi anemia 108
                    Fanconi anemia complementation group V 1
paths to the root