OntologyTerm
inflammatory bowel disease, immunodeficiency, and encephalopathy

released
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   December 12th, 2019 at 12:21am

Details

definition 
An autosomal recessive disorder characterized by severe infantile inflammatory bowel disease manifesting as bloody diarrhea and failure to thrive, global developmental delay, epilepsy, brain atrophy and encephalopathy. Affected individuals suffer from recurrent infections associated with impaired T-cell response to stimulation and decreased T-cell subsets, including regulatory and helper T cells. (EFO)
namespace 
http://www.ebi.ac.uk/efo
parents 
  1. syndromic disease
  2. autosomal recessive disease
preferred_name 
inflammatory bowel disease, immunodeficiency, and encephalopathy
source_ontologies 
  1. Experimental Factor Ontology
term_id 
EFO:0010258
term_name 
inflammatory bowel disease, immunodeficiency, and encephalopathy
term_url 
http://www.ebi.ac.uk/efo/EFO_0010258