{
    "disease_id": "DOID:0061185",
    "recommended_name": {
        "id": "DOID:0061185",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061185",
        "name": "autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0011174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011174",
            "name": "hyperzincemia with functional zinc depletion",
            "description": ""
        },
        {
            "id": "MONDO:0011174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011174",
            "name": "hyperzincemia and hypercalprotectinemia",
            "description": ""
        },
        {
            "id": "MONDO:0011174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011174",
            "name": "hyperzincemia with functional zinc depletion",
            "description": ""
        },
        {
            "id": "MONDO:0011174",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011174",
            "name": "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome",
            "description": ""
        },
        {
            "id": "MIM:601979",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601979",
            "name": "Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia",
            "description": "Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061185"
    ],
    "unlinked_id_list": []
}