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Metadata
ID DOID:0110924
Name familial hemophagocytic lymphohistiocytosis 4
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
Xrefs

GARD:9929

OMIM:603552

Subsets

DO_rare_slim

Synonyms

FHL4 [EXACT]

HLH4 [EXACT]

HPLH4 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a hemophagocytic lymphohistiocytosis

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