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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 28
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Accession:DOID:0111995 term browser browse the term
Definition:A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11. (DO)
Synonyms:exact_synonym: IFNGR2 deficiency;   IMD28;   MSMD due to complete IFNgammaR2 deficiency;   MSMD due to complete interferon gamma receptor 2 deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency;   immunodeficiency 28, mycobacteriosis;   immunodeficiency 28, mycobacteriosis, autosomal recessive
 primary_id: OMIM:614889
 xref: ORDO:319547
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,640,407...31,666,839
Ensembl chr11:31,640,407...31,664,061
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar
OMIM
PMID:15924140, PMID:16690980, PMID:16885196, PMID:18625743, PMID:25741868, PMID:28492532, PMID:30814731 NCBI chr11:31,694,339...31,712,611
Ensembl chr11:31,694,339...31,712,611
JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,560,301...31,582,457
Ensembl chr11:31,560,530...31,582,457
JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,719,441...31,752,276
Ensembl chr11:31,719,443...31,752,243
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        immunodeficiency 28 4
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                immunodeficiency 28 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.