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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 118
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Accession:DOID:9007628 term browser browse the term
Definition:A disease characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination. Caused by hemizygous mutation in the MCTS1 gene on chromosome Xq24.
Synonyms:exact_synonym: IMD118;   Immunodeficiency 118, mycobacteriosis;   Immunodeficiency 118, mycobacteriosis, X-linked recessive
 primary_id: OMIM:301115



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Immunodeficiency 118 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Immunodeficiency 118 OMIM
ClinVar
PMID:37875108 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        Immunodeficiency 118 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            Immunodeficiency 118 1
paths to the root