C126293Level 7
UNC13D Deficiency
**Semantic type:** Disease or Syndrome
**Definition:** A condition of decreased or absent presence of protein unc-13 homolog D. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis 3.
**Synonyms:** - MUNC13-4 Deficiency - MUNC13-4 Deficiency/UNC13D
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