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 89 and Autoimmunity
go back to main search page
Accession:DOID:9006139 term browser browse the term
Definition:An autosomal recessive immune disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease. Caused by homozygous mutation in the CARD10 gene on chromosome 22q13.
Synonyms:exact_synonym: IMD89
 primary_id: OMIM:619632
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Immunodeficiency 89 and Autoimmunity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card10 caspase recruitment domain family, member 10 ISO ClinVar Annotator: match by term: Immunodeficiency 89 and autoimmunity OMIM
ClinVar
PMID:32238915 NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      primary immunodeficiency disease 3820
        Immunodeficiency 89 and Autoimmunity 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Immune & Inflammatory Diseases 5154
        immune system disease 4479
          primary immunodeficiency disease 3820
            autoimmune disease 2286
              Immunodeficiency 89 and Autoimmunity 1
paths to the root