{
    "disease_id": "DOID:0081450",
    "recommended_name": {
        "id": "DOID:0081450",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081450",
        "name": "hyperimmunoglobulinemia D periodic fever syndrome",
        "description": "A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0081450",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081450",
            "name": "HYPER-IgD SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyperimmunoglobulinemia D with periodic fever",
            "description": "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)."
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "HIDS",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyper-IgD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyperimmunoglobinemia D with recurrent fever",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyperimmunoglobulinemia D syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "partial mevalonate kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "hyper IgD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009849",
            "name": "periodic fever Dutch type",
            "description": ""
        },
        {
            "id": "MIM:260920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260920",
            "name": "Hyperimmunoglobulinemia D and periodic fever syndrome",
            "description": "Hyperimmunoglobulinemia D and periodic fever syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081450"
    ],
    "unlinked_id_list": []
}