|  Help  |  About  |  Contact Us

DO Term : immunodeficiency 36 [DOID:0111949] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1.
  • synonyms:
  • NCI:C176703,
  • 616005,
  • OMIM:616005,
  • activated phosphoinositide 3-kinase delta syndrome 2,
  • IMD36,
  • UMLS_CUI:C4014934
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