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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:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome
ClinVar Annotator: match by term: Aldrich syndrome
ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated
OMIM
ClinVar
CTD
PMID:2906042 PMID:7579329 PMID:7579347 PMID:7735919 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8595430 PMID:8673127 PMID:8682510 PMID:8743175 PMID:9126958 PMID:9326235 PMID:9536098 PMID:9657775 PMID:10202051 PMID:10447259 PMID:10653325 PMID:10691337 PMID:10737997 PMID:11298372 PMID:11442475 PMID:11598004 PMID:12073025 PMID:12199801 PMID:12351383 PMID:12437929 PMID:12727931 PMID:12969986 PMID:14504083 PMID:14566484 PMID:14612666 PMID:15284122 PMID:15497008 PMID:16091449 PMID:16511828 PMID:16638962 PMID:17065640 PMID:17213309 PMID:17250667 PMID:17390083 PMID:17400488 PMID:17576681 PMID:17703096 PMID:18162713 PMID:19308710 PMID:19817875 PMID:20173115 PMID:20232122 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22523910 PMID:23033889 PMID:24210885 PMID:24728327 PMID:25091438 PMID:25741868 PMID:25931402 PMID:27993330 PMID:28492532 PMID:30981783, PMID:8069912 RGD:1599803 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
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
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:27742395 PMID:28492532 NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      primary immunodeficiency disease 2698
        lymphopenia 59
          Wiskott-Aldrich syndrome 3
            Wiskott-Aldrich Syndrome 2 1
            Wiskott-Aldrich Syndrome, Autosomal Dominant Form 0
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            X-linked monogenic disease 1019
              X-linked recessive disease 381
                Wiskott-Aldrich syndrome 3
                  Wiskott-Aldrich Syndrome 2 1
                  Wiskott-Aldrich Syndrome, Autosomal Dominant Form 0
paths to the root