DOID:0111952 - immunodeficiency 57
Disease Ontology Definition:A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2.
Synonyms: IMD57, immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome, immunodeficiency 57 with autoinflammation
Xenbase Genes : ripk1
|OMIM:618108 - IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION; IMD57|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee