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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 71
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Accession:DOID:0112004 term browser browse the term
Definition:A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. (DO)
Synonyms:exact_synonym: ARPC1B-RELATED CONDITION;   IMD71;   PLTEID;   immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia;   platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
 primary_id: OMIM:617718

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immunodeficiency 71 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc1b actin related protein 2/3 complex subunit 1B ISO ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27965109 More... NCBI chrNW_004936750:1,651,026...1,662,208
Ensembl chrNW_004936750:1,650,979...1,662,206 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      primary immunodeficiency disease 3538
        combined immunodeficiency 820
          immunodeficiency 71 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9605
            autosomal genetic disease 8889
              autosomal recessive disease 6216
                immunodeficiency 71 1
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