OBO ID: DOID:0111952 |
Term Name: | immunodeficiency 57 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0111952 ) |
OTHER immunodeficiency 57 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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