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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
 related_synonym: immunodeficiency 18, SCID variant;   immunodeficiency 18, severe combined;   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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        immunodeficiency 18 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                immunodeficiency 18 1
paths to the root