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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 87 and Autoimmunity
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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: DEF6-RELATED CONDITION;   IMD87
 primary_id: OMIM:619573



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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: DEF6-related condition | ClinVar Annotator: match by term: Immunodeficiency 87 and autoimmunity OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31308374 PMID:32562707 NCBI chr20:6,268,579...6,290,030
Ensembl chr20:6,268,601...6,289,961
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    syndrome 10752
      primary immunodeficiency disease 4145
        Immunodeficiency 87 and Autoimmunity 1
Path 2
Term Annotations click to browse term
  disease 21147
    disease of anatomical entity 18195
      Immune & Inflammatory Diseases 5561
        immune system disease 4772
          primary immunodeficiency disease 4145
            autoimmune disease 2318
              Immunodeficiency 87 and Autoimmunity 1
paths to the root