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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10758162 PMID:10961859 PMID:11278678 PMID:14676277 More... 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 73a with defective neutrophil chemotaxis and leukocytosis 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 dominant disease 6311
                immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
paths to the root