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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 the STAT2 gene on chromosome 12q13.3. (DO)
Synonyms:exact_synonym: IMD44
 primary_id: OMIM:616636



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immunodeficiency 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 44 ClinVar PMID:25741868 PMID:26424569 PMID:28492532 PMID:33193576 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
JBrowse link
G Stat2 signal transducer and activator of transcription 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 44
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23391734 PMID:24033266 More... NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      primary immunodeficiency disease 4144
        immunodeficiency 44 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                immunodeficiency 44 2
paths to the root