Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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 chr 5:10,553,986...10,571,082
Ensembl chr 5:10,553,433...10,573,014 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15289
    syndrome 9947
      primary immunodeficiency disease 3709
        combined immunodeficiency 867
          immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
Path 2
Term Annotations click to browse term
  disease 15289
    Developmental Disease 13240
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12318
        genetic disease 11984
          monogenic disease 10033
            autosomal genetic disease 9260
              autosomal dominant disease 6129
                immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
paths to the root