OBO ID: DOID:0111952
Term Name: immunodeficiency 57 Search Ontology:
Synonyms:
  • IMD57
  • immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
  • immunodeficiency 57 with autoinflammation
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. https://pubmed.ncbi.nlm.nih.gov/30026316/
References:
Ontology: Human Disease   (DOID:0111952)
OTHER immunodeficiency 57 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RIPK1 Immunodeficiency 57 with autoinflammation 618108
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None