Search Ontology:
Human Disease
immunodeficiency 57
- Term ID
- DOID:0111952
- Synonyms
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- 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 the RIPK1 gene on chromosome 6p25.2. https://pubmed.ncbi.nlm.nih.gov/30026316/
- References
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- MIM:618108
- ORDO:529977
- Ontology
- Human Disease ( DOID:0111952 )
- is a type of
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Genes Involved
Zebrafish Models