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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: Severe congenital neutropenia X-linked ClinVar PMID:24033266 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by OMIM:300299
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe congenital neutropenia X-linked
ClinVar Annotator: match by term: X-linked severe congenital neutropenia
OMIM
ClinVar
CTD
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 17445
    physical disorder 3128
      severe congenital neutropenia 11
        X-linked severe congenital neutropenia 2
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Hemic and Lymphatic Diseases 2396
        hematopoietic system disease 1971
          leukocyte disease 518
            leukopenia 128
              agranulocytosis 64
                neutropenia 60
                  severe congenital neutropenia 11
                    X-linked severe congenital neutropenia 2
paths to the root