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RGD uses the Human Disease Ontology (DO, 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 ARPC1B on chromosome 7q22.1. (DO)
Synonyms:exact_synonym: IMD71;   PLTEID;   immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia;   platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
 primary_id: OMIM:617718
For additional species annotation, visit the Alliance of Genome Resources.

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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: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28368018 PMID:28492532 More... NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    syndrome 9798
      primary immunodeficiency disease 3866
        combined immunodeficiency 770
          immunodeficiency 71 1
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          monogenic disease 8941
            autosomal genetic disease 7989
              autosomal recessive disease 4968
                immunodeficiency 71 1
paths to the root