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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 Q
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Accession:DOID:0111093 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: FANCQ
 primary_id: OMIM:615272
 alt_id: RDO:9000887
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi anemia complementation group Q term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by OMIM:615272
ClinVar Annotator: match by term: Fanconi anemia, complementation group q
ClinVar Annotator: match by term: Fanconi anemia, complementation group Q
OMIM
ClinVar
PMID:23623386 PMID:25741868 PMID:28292785 PMID:28492532 PMID:30165384 PMID:30658521 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital hypoplastic anemia 110
        Fanconi anemia 43
          Fanconi anemia complementation group Q 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2059
        hematopoietic system disease 1642
          bone marrow disease 481
            Bone Marrow Failure Disorders 170
              aplastic anemia 158
                congenital hypoplastic anemia 110
                  Fanconi anemia 43
                    Fanconi anemia complementation group Q 1
paths to the root