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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:Wiskott-Aldrich syndrome
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Accession:DOID:9169 term browser browse the term
Definition:A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). (DO)
Synonyms:exact_synonym: Aldrich Syndrome;   IMD2;   WAS;   WAS1;   Wiskott Syndrome;   Wiskott-Aldrich syndrome 1;   eczema-thrombocytopenia-immunodeficiency syndrome;   eczema-thrombocytopenia-immunodeficiency syndromes;   immunodeficiency 2
 narrow_synonym: Wiskott-Aldrich syndrome, attenuated
 primary_id: MESH:D014923
 alt_id: OMIM:301000
 xref: ICD10CM:D82.0;   ICD9CM:279.12;   NCI:C3448
For additional species annotation, visit the Alliance of Genome Resources.



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Wiskott-Aldrich syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 ISS OMIM:301000 | OMIM:614493 MouseDO NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Was WASP actin nucleation promoting factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated
OMIM
CTD
ClinVar
RGD
PMID:2906042 PMID:7579329 PMID:7579347 PMID:7735919 PMID:7753869 More... RGD:1599803 NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Washc4 WASH complex subunit 4 ISS OMIM:301000 MouseDO NCBI chr 7:20,187,905...20,240,228
Ensembl chr 7:20,187,922...20,240,226
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742
JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wipf1 WAS/WASL interacting protein family, member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 More... NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      primary immunodeficiency disease 3718
        lymphopenia 62
          Wiskott-Aldrich syndrome 4
            Wiskott-Aldrich Syndrome 2 1
            Wiskott-Aldrich Syndrome, Autosomal Dominant Form 0
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            X-linked monogenic disease 1182
              X-linked recessive disease 438
                Wiskott-Aldrich syndrome 4
                  Wiskott-Aldrich Syndrome 2 1
                  Wiskott-Aldrich Syndrome, Autosomal Dominant Form 0
paths to the root