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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.


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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 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
OMIM
ClinVar
CTD
PMID:3284030, PMID:7579347, PMID:7753869, PMID:8069912, PMID:8528198, PMID:8528199, PMID:8595430, PMID:8666397, PMID:8682510, PMID:8757562, PMID:8757563, PMID:8931701, PMID:9326235, 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:12727931, PMID:12969986, PMID:14504083, PMID:15284122, PMID:15497008, PMID:16091449, PMID:16511828, PMID:16638962, PMID:16804117, PMID:17213309, PMID:17400488, PMID:17703096, PMID:17724125, PMID:18162713, PMID:19006568, PMID:19308710, PMID:19817875, PMID:20173115, PMID:20959042, PMID:21185603, PMID:21710275, PMID:21771083, PMID:22426750, PMID:22523910, PMID:22679904, PMID:23033889, PMID:23160469, PMID:23807894, PMID:24210885, PMID:24728327, PMID:25332606, PMID:25476427, PMID:25741868, PMID:25792466, PMID:25862925, PMID:25931402, PMID:26261240, PMID:27264129, PMID:27566838, PMID:28492532, PMID:28623282, PMID:28641574, PMID:28748566, PMID:28931895, PMID:31064749 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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              Severe Congenital Neutropenia, X-Linked 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          leukocyte disease 499
            leukopenia 124
              agranulocytosis 64
                neutropenia 60
                  severe congenital neutropenia 11
                    Severe Congenital Neutropenia, X-Linked 2
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.