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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 30
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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.


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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
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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
        T cell and NK cell immunodeficiency 4
          immunodeficiency 30 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 30 1
paths to the root