Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 30
go back to main search page
Accession:DOID:0111990 term browser browse the term
Definition:A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL12RB1 on chromosome 19p13.11. (DO)
Synonyms:exact_synonym: IL12RB1 Deficiency;   IMD30;   MSMD due to complete IL12RB1 deficiency;   MSMD due to complete interleukin 12 receptor beta 1 deficiency;   Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
 primary_id: OMIM:614891
 xref: ORDO:319552
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
immunodeficiency 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il12rb1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by OMIM:614891
ClinVar Annotator: match by term: Immunodeficiency 30
ClinVar
OMIM
PMID:9603733, PMID:11313259, PMID:11424023, PMID:11992283, PMID:12591909, PMID:12594833, PMID:12830418, PMID:15178580, PMID:15736007, PMID:16088278, PMID:16293671, PMID:17392024, PMID:19460324, PMID:21057261, PMID:21487897, PMID:21812800, PMID:24033266, PMID:24186907, PMID:25741868, PMID:26343451, PMID:26976630, PMID:27141500, PMID:28492532, PMID:29256176, PMID:30998751 NCBI chr16:20,370,722...20,383,576
Ensembl chr16:20,371,338...20,383,337
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        T cell and NK cell immunodeficiency 4
          immunodeficiency 30 1
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 30 1
paths to the root

NHLBI Logo

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