SH2D1A Deficiency

Preferred Label : SH2D1A Deficiency;

Obsolete resource : true;

NCIt synonyms : X-linked Lymphoproliferative Syndrome 1; SH2D1A deficiency/XLP1; XLP1;

NCIt related terms : SH2D1A deficiency/XLP1;

NCIt definition : A condition of decreased or absent presence or activity of SH2 domain protein 1A. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 1 (Duncan Disease).;

NCIt note : See 'X-linked Lymphoproliferative Syndrome 1(C170434)';

Concept status : Retired_Concept;

NCI Metathesaurus CUI : CL504911;

Details

Origin ID

C126350;

UMLS CUI

C4283963;

Automatic exact mappings (from CISMeF team)
- Lymphoproliferative syndrome, X-linked, 1 [OMIM Phenotype]
- X-linked lymphoproliferative disease due to SH2D1A deficiency [ORDO Disease]
- X-linked lymphoproliferative syndrome 1 [DO Concept]
- lymphoproliferative disorders [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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