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| Term | autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia | ID (Ontology) | DOID:0061185 (Human Disease) |
| 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. | ||
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autosomal genetic disease |__autosomal dominant disease__ inherited metabolic disorder | |__vitamin metabolic disorder__| autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia |
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vitamin metabolic disorder autosomal dominant disease |
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| MIM:601979 | |||