Search Ontology:
Human Disease
autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
- Term ID
- DOID:0061185
- Synonyms
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- Definition
- A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. https://pubmed.ncbi.nlm.nih.gov/26025129/
- References
- Ontology
- Human Disease ( DOID:0061185 )
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Genes Involved
Zebrafish Models