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 87 and Autoimmunity
go back to main search page
Accession:DOID:9002508 term browser browse the term
Definition:An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Caused by homozygous mutation in the DEF6 gene on chromosome 6p21. (OMIM)
Synonyms:exact_synonym: IMD87
 primary_id: OMIM:619573
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Immunodeficiency 87 and Autoimmunity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEF6 DEF6 guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Immunodeficiency 87 and autoimmunity OMIM
ClinVar
PMID:28492532 PMID:31308374 PMID:32562707 NCBI chr 7:31,191,788...31,216,436
Ensembl chr 7:31,193,858...31,216,414
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14396
    syndrome 8668
      primary immunodeficiency disease 3343
        Immunodeficiency 87 and Autoimmunity 1
Path 2
Term Annotations click to browse term
  disease 14396
    disease of anatomical entity 14114
      Immune & Inflammatory Diseases 4502
        immune system disease 3941
          primary immunodeficiency disease 3343
            autoimmune disease 1901
              Immunodeficiency 87 and Autoimmunity 1
paths to the root