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RGD uses the Human Disease Ontology (DO, 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:Neutrophil Immunodeficiency Syndrome
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Accession:DOID:9002875 term browser browse the term
Synonyms:exact_synonym: IMD73A;   immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis
 primary_id: MESH:C564275
 alt_id: OMIM:608203
For additional species annotation, visit the Alliance of Genome Resources.

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Neutrophil Immunodeficiency Syndrome 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: Neutrophil immunodeficiency syndrome OMIM
PMID:10758162, PMID:10961859, PMID:11278678, PMID:14676277, PMID:21167572, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30723080 NCBI chr 7:119,769,708...119,797,111
Ensembl chr 7:119,783,849...119,797,098
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Neutrophil Immunodeficiency Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            Neutrophil Immunodeficiency Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.