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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 2
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Accession:DOID:9004016 term browser browse the term
Synonyms:exact_synonym: WAS2;   WIPF1 DEFICIENCY
 primary_id: MIM:614493;   RDO:9000858


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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 chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763 		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 chr2B:61,837,128...61,960,468
Ensembl chr2B:179,290,685...179,316,695 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    syndrome 10605
      primary immunodeficiency disease 3964
        lymphopenia 84
          Wiskott-Aldrich syndrome 46
            Wiskott-Aldrich Syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 15805
    Developmental Disease 13797
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12848
        genetic disease 12543
          monogenic disease 10717
            X-linked monogenic disease 1463
              X-linked recessive disease 890
                Wiskott-Aldrich syndrome 46
                  Wiskott-Aldrich Syndrome 2 2
paths to the root