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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:X-linked severe congenital neutropenia
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Accession:DOID:0112128 term browser browse the term
Definition:A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: SCNX;   XLN
 primary_id: MESH:C564539
 alt_id: OMIM:300299
 xref: GARD:3981;   NCI:C176818
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked severe congenital neutropenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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G Was WASP actin nucleation promoting factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
OMIM
CTD
ClinVar
PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:8069912 More... NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    physical disorder 4045
      severe congenital neutropenia 223
        X-linked severe congenital neutropenia 2
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          leukocyte disease 862
            leukopenia 365
              agranulocytosis 299
                neutropenia 295
                  severe congenital neutropenia 223
                    X-linked severe congenital neutropenia 2
paths to the root