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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 L
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Accession:DOID:0111082 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. (DO)
Synonyms:exact_synonym: FANCL
 primary_id: OMIM:614083
 alt_id: RDO:9000302
 xref: NCI:C164677
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi anemia complementation group L term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group L
ClinVar Annotator: match by OMIM:614083
OMIM
ClinVar
PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26822237 PMID:26822949 PMID:27153395 PMID:28492532 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:26822237 PMID:26822949 PMID:27153395 PMID:28492532 NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital hypoplastic anemia 110
        Fanconi anemia 43
          Fanconi anemia complementation group L 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Hemic and Lymphatic Diseases 2065
        hematopoietic system disease 1647
          bone marrow disease 483
            Bone Marrow Failure Disorders 170
              aplastic anemia 158
                congenital hypoplastic anemia 110
                  Fanconi anemia 43
                    Fanconi anemia complementation group L 2
paths to the root