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immunodeficiency 87 - Ontology Report - Rat Genome Database

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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
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Accession:DOID:0061057 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. (DO)
Synonyms:exact_synonym: IMD87;   immunodeficiency 87 and autoimmunity
 broad_synonym: DEF6-related condition
 alt_id: DOID:9002508
 xref: MIM:619573;   MONDO:0030457

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immunodeficiency 87 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      immune system disease 5070
        autoimmune disease 2376
          immunodeficiency 87 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14665
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10946
            autosomal genetic disease 10433
              autosomal recessive disease 7126
                immunodeficiency 87 1
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