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| Term | combined cellular and humoral immune defects with granulomas | ID (Ontology) | DOID:0112253 (Human Disease) |
| Definition | A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. | ||
| Also Known As | "CCHIDG" ; "CID due to RAG 1/2 deficiency" ; "combined immunodeficiency due to RAG 1/2 deficiency" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease___ primary immunodeficiency disease | |__combined immunodeficiency_____| combined cellular and humoral immune defects with granulomas |
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| Is a |
autosomal recessive disease combined immunodeficiency |
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External Crossreferences & Linkouts
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GARD:13587 MESH:C567115 MIM:233650 ORDO:157949 |
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