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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 18
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Accession:DOID:0111971 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3E on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: CD3-epsilon deficiency;   IMD18;   immunodeficiency due to defect in CD3-Epsilon;   severe combined immunodeficiency 18
 narrow_synonym: immunodeficiency 18, SCID variant;   immunodeficiency, variant
 primary_id: MESH:C566082
 alt_id: OMIM:615615
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd3e CD3e molecule ISO ClinVar Annotator: match by OMIM:615615
ClinVar Annotator: match by term: Immunodeficiency 18
OMIM
ClinVar
PMID:1370449, PMID:1676369, PMID:8490660, PMID:15546002, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 8:49,297,604...49,309,370
Ensembl chr 8:49,297,608...49,308,806
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        immunodeficiency 18 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                immunodeficiency 18 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.