OBO ID: DOID:0060707
Term Name: lymphoproliferative syndrome 1 Search Ontology:
Synonyms:
  • LPFS1
Definition: A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. (2)
References:
Ontology: Human Disease   (DOID:0060707)
OTHER lymphoproliferative syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITK Lymphoproliferative syndrome 1 613011
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None