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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:Immunodeficiency 102
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Accession:DOID:9000339 term browser browse the term
Definition:An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Caused by hemizygous mutation in the SASH3 gene on chromosome Xq26.
Synonyms:exact_synonym: IMD102
 primary_id: OMIM:301082

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Immunodeficiency 102 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash3 SAM and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 102 OMIM
ClinVar		 PMID:33876203 PMID:35464398 NCBI chrNW_004936479:1,752,180...1,765,330
Ensembl chrNW_004936479:1,750,746...1,765,361 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      primary immunodeficiency disease 3540
        Immunodeficiency 102 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Immune & Inflammatory Diseases 4721
        immune system disease 4107
          primary immunodeficiency disease 3540
            Immunodeficiency 102 1
paths to the root