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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:Severe Combined Immunodeficiency, Atypical
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Accession:DOID:9008181 term browser browse the term
Synonyms:exact_synonym: SCID, atypical
 primary_id: MESH:C537590;   RDO:0003459



show annotations for term's descendants           Sort by:
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, atypical ClinVar PMID:8124727 PMID:20301777 PMID:25741868 PMID:27448562 PMID:28492532 NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      primary immunodeficiency disease 4140
        combined immunodeficiency 895
          severe combined immunodeficiency 487
            Severe Combined Immunodeficiency, Atypical 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Immune & Inflammatory Diseases 5558
        immune system disease 4767
          primary immunodeficiency disease 4140
            combined immunodeficiency 895
              severe combined immunodeficiency 487
                Severe Combined Immunodeficiency, Atypical 1
paths to the root