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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 44
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Accession:DOID:0111975 term browser browse the term
Definition:A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in STAT2 on chromosome 12q13.3. (DO)
Synonyms:exact_synonym: IMD44
 primary_id: OMIM:616636
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: Immunodeficiency 44 OMIM
ClinVar
PMID:23391734 PMID:24033266 PMID:25741868 PMID:26122121 PMID:28492532 NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        immunodeficiency 44 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                immunodeficiency 44 1
paths to the root