X-linked Lymphoproliferative Syndrome 1

Preferred Label : X-linked Lymphoproliferative Syndrome 1;

NCIt synonyms : IMD5; Immunodeficiency 5; XLP1; XLP1/SAP;

NCIt related terms : X-linked lymphoproliferative disease 1; SH2D1A deficiency/XLP1;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the SH2D1A gene, encoding SH2 domain-containing protein 1A. It is characterized by a susceptibility to severe EBV infection, acquired hypogammaglobulinemia, hemophagocytic lymphohistiocytosis, and/or lymphoma.;

NCI Metathesaurus CUI : CL1382880;

Details

Origin ID

C170434;

UMLS CUI

C5399825;

Automatic exact mappings (from CISMeF team)
- X-linked lymphoproliferative disease due to SH2D1A deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Lymphoproliferative syndrome, X-linked, 1 [OMIM Phenotype]
- X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder) [SNOMED CT concept]
- X-linked lymphoproliferative syndrome 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lymphoproliferative syndrome, X-linked, 1 [OMIM Phenotype]
- X-linked lymphoproliferative disease due to SH2D1A deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- lymphoproliferative disorders [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SH2D1A Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- SH2D1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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