loading...| Preferred Name | X-Linked Lymphoproliferative Syndrome | |
| Synonyms |
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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://purl.obolibrary.org/obo/NCIT_C61246 |
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| code |
C61246 |
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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. |
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| Display_Name |
X-Linked Lymphoproliferative Syndrome |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
X-Linked Lymphoproliferative Syndrome |
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| Legacy Concept Name |
X-Linked_Lymphoproliferative_Syndrome |
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| Preferred_Name |
X-Linked Lymphoproliferative Syndrome |
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| prefixIRI |
NCIT:C61246 |
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| prefLabel |
X-Linked Lymphoproliferative Syndrome |
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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 |