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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 11A
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Accession:DOID:0111957 term browser browse the term
Definition:A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2. (DO)
Synonyms:exact_synonym: CARD11 Immunodeficiency;   CARD11 deficiency;   IMD11;   IMD11A;   SCID due to CARD11 deficiency;   immunodeficiency 11;   severe combined immunodeficiency due to CARD11 deficiency
 primary_id: OMIM:615206
 xref: ORDO:357237
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 11A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: Immunodeficiency 11 OMIM
ClinVar
PMID:18323416, PMID:23027925, PMID:23129749, PMID:23374270, PMID:23561803, PMID:24728327, PMID:25352053, PMID:25741868, PMID:26861442, PMID:28492532, PMID:28824638, PMID:29472930, PMID:30170123 NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Infant, Newborn, Diseases 547
          severe combined immunodeficiency 91
            immunodeficiency 11A 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                immunodeficiency 11A 1
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.