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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 73b with defective neutrophil chemotaxis and lymphopenia
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Accession:DOID:0112061 term browser browse the term
Definition:A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. (DO)
Synonyms:exact_synonym: IMD73B;   Immunodeficiency 73B
 primary_id: MIM:618986


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immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rac2 Rac family small GTPase 2 ISO
ISS		 ClinVar Annotator: match by term: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
OMIM:618986		 OMIM
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 PMID:30654050 PMID:30723080 PMID:31071452 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      primary immunodeficiency disease 4308
        combined immunodeficiency 943
          immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          monogenic disease 10820
            autosomal genetic disease 10300
              autosomal dominant disease 6645
                immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 1
paths to the root