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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 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
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Accession:DOID:0112062 term browser browse the term
Definition:A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: IMD73C;   immunodeficiency 73C
 primary_id: OMIM:618987


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immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia OMIM
ClinVar		 PMID:25512081 PMID:25741868 PMID:28492532 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 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        combined immunodeficiency 896
          immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1
paths to the root