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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 I
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Accession:DOID:0111091 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. (DO)
Synonyms:exact_synonym: FANCI
 primary_id: MESH:C563802
 alt_id: OMIM:609053;   RDO:0012968
 xref: NCI:C129026
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi anemia complementation group I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by OMIM:609053
ClinVar Annotator: match by null
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Fanconi anemia, complementation group I
OMIM
ClinVar
PMID:17412408 PMID:17452773 PMID:17460694 PMID:17924555 PMID:18414213 PMID:18931676 PMID:21324748 PMID:22720145 PMID:22778927 PMID:23093618 PMID:23524600 PMID:23613520 PMID:24989076 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26590883 PMID:27987238 PMID:28492532 PMID:28678401 PMID:28878254 PMID:29439820 PMID:30076350 PMID:30303537, PMID:17452773 RGD:11344924 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group I ClinVar PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital hypoplastic anemia 115
        Fanconi anemia 48
          Fanconi anemia complementation group I 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Hemic and Lymphatic Diseases 2166
        hematopoietic system disease 1751
          bone marrow disease 487
            Bone Marrow Failure Disorders 175
              aplastic anemia 163
                congenital hypoplastic anemia 115
                  Fanconi anemia 48
                    Fanconi anemia complementation group I 2
paths to the root