loading...| Preferred Name |
X-Linked Lymphoproliferative Syndrome |
|
| Synonyms |
Duncan Disease X-Linked Lymphoproliferative Syndrome X-linked Lymphoproliferative Syndrome |
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| Definitions |
An X-linked immunodeficiency syndrome that exclusively affects males, although females can be carriers. It is caused by mutation(s) in SH2D1A and/or XIAP genes and is characterized by life-threatening episodes of infectious mononucleosis, hypogammaglobulinemia, and subsequent development of lymphomas (usually B-cell lymphomas) and other lymphoproliferative disorders. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61246 |
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| code |
C61246 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 |
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| Contributing_Source |
CCPS CTRP |
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| DEFINITION |
An X-linked immunodeficiency syndrome that exclusively affects males, although females can be carriers. It is caused by mutation(s) in SH2D1A and/or XIAP genes and is characterized by life-threatening episodes of infectious mononucleosis, hypogammaglobulinemia, and subsequent development of lymphomas (usually B-cell lymphomas) and other lymphoproliferative disorders. |
|
| Display_Name |
X-Linked Lymphoproliferative Syndrome |
|
| FULL_SYN |
Duncan Disease X-Linked Lymphoproliferative Syndrome X-linked Lymphoproliferative Syndrome |
|
| label |
X-Linked Lymphoproliferative Syndrome |
|
| Legacy Concept Name |
X-Linked_Lymphoproliferative_Syndrome |
|
| Preferred_Name |
X-Linked Lymphoproliferative Syndrome |
|
| prefixIRI |
Thesaurus:C61246 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0549463 |
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| subClassOf |