Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 11A
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
immunodeficiency 11A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amz1 archaelysin family metallopeptidase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,886,533...13,924,275
Ensembl chr12:13,891,123...13,909,783
JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18323416 PMID:23129749 PMID:23374270 More... NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
JBrowse link
G Gna12 G protein subunit alpha 12 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,805,580...13,886,255
Ensembl chr12:13,805,698...13,886,255
JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008
JBrowse link
G Ttyh3 tweety family member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,996,831...14,025,457
Ensembl chr12:13,997,045...14,025,459
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        Infant, Newborn, Diseases 1098
          severe combined immunodeficiency 453
            immunodeficiency 11A 7
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                immunodeficiency 11A 7
paths to the root