Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 2
go back to main search page
Accession:DOID:9004016 term browser browse the term
Synonyms:exact_synonym: WAS2;   WIPF1 DEFICIENCY
 primary_id: MIM:614493;   RDO:9000858

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873 		JBrowse link
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 chrNW_004955449:760,382...831,007 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    syndrome 9817
      primary immunodeficiency disease 3751
        lymphopenia 74
          Wiskott-Aldrich syndrome 42
            Wiskott-Aldrich Syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 14336
    Developmental Disease 12608
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11871
        genetic disease 11599
          monogenic disease 9961
            X-linked monogenic disease 1282
              X-linked recessive disease 773
                Wiskott-Aldrich syndrome 42
                  Wiskott-Aldrich Syndrome 2 2
paths to the root