Preferred Name |
combined cellular and humoral immune defects with granulomas |
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Synonyms |
combined immunodeficiency due to RAG 1/2 deficiency combined immunodeficiency with skin granulomas combined immunodeficiency with granulomatosis CID due to RAG 1/2 deficiency CCHIDG |
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Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0112253 |
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database_cross_reference |
MESH:C567115 ORDO:157949 OMIM:233650 GARD:13587 |
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has exact synonym |
combined immunodeficiency due to RAG 1/2 deficiency combined immunodeficiency with skin granulomas combined immunodeficiency with granulomatosis CID due to RAG 1/2 deficiency CCHIDG |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0112253 |
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in_subset | ||
label |
combined cellular and humoral immune defects with granulomas |
|
notation |
DOID:0112253 |
|
prefLabel |
combined cellular and humoral immune defects with granulomas |
|
textual 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. |
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subClassOf |