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Metadata
ID DOID:0110921
Name familial hemophagocytic lymphohistiocytosis 1
Definition A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22.
https://www.ncbi.nlm.nih.gov/pubmed/9915955
Xrefs

OMIM:267700

Synonyms

FHL1 [EXACT]

HLH1 [EXACT]

HPLH1 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a hemophagocytic lymphohistiocytosis

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