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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 N
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Accession:DOID:0111094 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. (DO)
Synonyms:exact_synonym: FANCN
 primary_id: MESH:C563657
 alt_id: OMIM:610832
 xref: NCI:C176894


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Fanconi anemia complementation group N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group N		 CTD
ClinVar
OMIM		 PMID:100849 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital hypoplastic anemia 240
        Fanconi anemia 83
          Fanconi anemia complementation group N 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Hemic and Lymphatic Diseases 3852
        hematopoietic system disease 3341
          anemia 786
            normocytic anemia 679
              aplastic anemia 288
                congenital hypoplastic anemia 240
                  Fanconi anemia 83
                    Fanconi anemia complementation group N 1
paths to the root