FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 57 ID (Ontology) DOID:0111952 (Human Disease)
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 the RIPK1 gene on chromosome 6p25.2.
Also Known As "IMD57" ; "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" ; "immunodeficiency 57 with autoinflammation"
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 Genes
 immunodeficiency 57       1
 for disease ribbon | immunodeficiency 57       1
 model of | immunodeficiency 57       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 57  1 rec.
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "IMD57" EXACT OMO:0003012
    "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" EXACT
    "immunodeficiency 57 with autoinflammation" EXACT
Secondary IDs
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MIM:618108
ORDO:529977