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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 73a with defective neutrophil chemotaxis and leukocytosis
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Accession:DOID:0112064 term browser browse the term
Definition:A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. (DO)
Synonyms:exact_synonym: IMD73A;   neutrophil immunodeficiency syndrome
 primary_id: MESH:C564275
 alt_id: OMIM:608203
 xref: ORDO:183707

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immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 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 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS | ClinVar Annotator: match by term: Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis | ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome OMIM
ClinVar		 PMID:9536098 PMID:10758162 PMID:10961859 PMID:11278678 PMID:14676277 More... NCBI chrNW_004955413:23,697,504...23,710,668
Ensembl chrNW_004955413:23,693,669...23,710,704 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    syndrome 9376
      primary immunodeficiency disease 3480
        combined immunodeficiency 804
          immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
Path 2
Term Annotations click to browse term
  disease 14206
    Developmental Disease 12386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11607
        genetic disease 11298
          monogenic disease 9486
            autosomal genetic disease 8807
              autosomal dominant disease 5808
                immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
paths to the root