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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: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
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 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
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
PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8595430 PMID:8666397 PMID:8682510 PMID:8743175 PMID:8757562 PMID:8757563 PMID:8931701 PMID:9326235 PMID:9536098 PMID:9683546 PMID:10202051 PMID:10447259 PMID:10575547 PMID:10653325 PMID:10691337 PMID:11167787 PMID:11242115 PMID:11298372 PMID:11442475 PMID:11793485 PMID:11877312 PMID:12199801 PMID:12727931 PMID:12969986 PMID:14504083 PMID:15284122 PMID:15497008 PMID:16091449 PMID:16511828 PMID:16638962 PMID:16804117 PMID:17213309 PMID:17250667 PMID:17400488 PMID:17576681 PMID:17703096 PMID:17724125 PMID:18162713 PMID:19006568 PMID:19308710 PMID:19817875 PMID:20173115 PMID:20232122 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22038941 PMID:22426750 PMID:22523910 PMID:22679904 PMID:23023736 PMID:23033889 PMID:23160469 PMID:23807894 PMID:24210885 PMID:24728327 PMID:25091438 PMID:25332606 PMID:25476427 PMID:25741868 PMID:25792466 PMID:25862925 PMID:25931402 PMID:26261240 PMID:26368308 PMID:27264129 PMID:27566838 PMID:28492532 PMID:28623282 PMID:28641574 PMID:28748566 PMID:28931895 PMID:28956125 PMID:29991546 PMID:31064749 PMID:31352750 PMID:31354712 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      severe congenital neutropenia 11
        X-linked severe congenital neutropenia 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Hemic and Lymphatic Diseases 2217
        hematopoietic system disease 1797
          leukocyte disease 519
            leukopenia 126
              agranulocytosis 63
                neutropenia 59
                  severe congenital neutropenia 11
                    X-linked severe congenital neutropenia 2
paths to the root