released
December 12th, 2019 at 12:21am
Details
Details
definition
An autosomal recessive disorder characterized by recurrent gastrointestinal mucosal ulcers, gastrointestinal bleeding, chronic anemia, iron deficiency, and abdominal pain. Disease features also include platelet dysfunction, and globally decreased eicosanoid synthesis. (EFO)
namespace
http://www.ebi.ac.uk/efo
preferred_name
gastrointestinal ulceration, recurrent, with dysfunctional platelets
source_ontologies
term_id
EFO:0010263
term_name
gastrointestinal ulceration, recurrent, with dysfunctional platelets
term_url
http://www.ebi.ac.uk/efo/EFO_0010263