familial hemophagocytic lymphohistiocytosis 2

Term ID

DOID:0110922

Synonyms

• FHL2
• HLH2
• HPLH2

Definition

A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. https://www.ncbi.nlm.nih.gov/pubmed/10583959

References

• GARD:9922
• OMIM:603553

Ontology

Human Disease   ( DOID:0110922 )