STXBP2 Deficiency

Preferred Label : STXBP2 Deficiency;

NCIt synonyms : MUNC18-2 Deficiency;

NCIt related terms : MUNC18-2 Deficiency/STXBP2;

NCIt definition : A condition of decreased or absent presence of syntaxin-binding protein 2. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis type 5.;

NCI Metathesaurus CUI : CL504867;

Details

Origin ID

C126294;

UMLS CUI

C4288260;

Currated CISMeF NLP mapping
- STXBP2 deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_mapped_to_gene
- STXBP2 Gene [NCIt concept]
related_to_genetic_biomarker
- STXBP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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