OBO ID: DOID:0110925
Term Name: familial hemophagocytic lymphohistiocytosis 5 Search Ontology:
Synonyms:
  • FHL5
  • HLH5
  • HPLH5
Definition: A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. https://www.ncbi.nlm.nih.gov/pubmed/19804848
References:
Ontology: Human Disease   ( DOID:0110925 )
Relationships
is a type of:
OTHER familial hemophagocytic lymphohistiocytosis 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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