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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 RAC2 on chromosome 22q12. (DO)
Synonyms:exact_synonym: IMD73C;   immunodeficiency 73C
 primary_id: OMIM:618987
For additional species annotation, visit the Alliance of Genome Resources.



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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      primary immunodeficiency disease 3835
        combined immunodeficiency 772
          immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1
paths to the root