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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:Severe Congenital Neutropenia, X-Linked
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Accession:DOID:9000313 term browser browse the term
Synonyms:exact_synonym: SCNX;   XLN
 primary_id: MESH:C564539
 alt_id: OMIM:300299;   RDO:0013471
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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Severe Congenital Neutropenia, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Was WASP actin nucleation promoting factor ISO OMIM NCBI chrNW_004955543:243,618...253,489 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11812
    Developmental Diseases 8412
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7390
        genetic disease 6941
          monogenic disease 5108
            X-linked monogenic disease 807
              Severe Congenital Neutropenia, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 11812
    disease of anatomical entity 11367
      Hemic and Lymphatic Diseases 1737
        hematopoietic system disease 1401
          leukocyte disease 422
            leukopenia 80
              agranulocytosis 49
                neutropenia 46
                  severe congenital neutropenia 10
                    Severe Congenital Neutropenia, X-Linked 1
paths to the root

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