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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:immunodeficiency 62
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Accession:DOID:0111991 term browser browse the term
Definition:A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. (DO)
Synonyms:exact_synonym: IMD62
 primary_id: MIM:618459


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immunodeficiency 62 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 62 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 62 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30521495 NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Immunodeficiency 62 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      primary immunodeficiency disease 4421
        B cell deficiency 440
          immunodeficiency 62 3
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10860
            autosomal genetic disease 10342
              autosomal recessive disease 6945
                immunodeficiency 62 3
paths to the root