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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
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
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
 replaced_by: DOID:0061084


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