|  Help  |  About  |  Contact Us

DO Term : lymphoproliferative syndrome 1 [DOID:0060707] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • LPFS1,
  • 613011,
  • OMIM:613011,
  • ICD10CM:D47.9
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents