loading...| 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. |
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| 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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| 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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| 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 |
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| id |
DOID:0112253 |
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| in_subset | ||
| label |
combined cellular and humoral immune defects with granulomas |
|
| notation |
DOID:0112253 |
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| prefLabel |
combined cellular and humoral immune defects with granulomas |
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| subClassOf |