familial hemophagocytic lymphohistiocytosis 4

Term ID

DOID:0110924

Synonyms

• FHL4
• HLH4
• HPLH4

Definition

A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. https://www.ncbi.nlm.nih.gov/pubmed/15703195

References

• GARD:9929
• OMIM:603552

Ontology

Human Disease   ( DOID:0110924 )