{
    "disease_id": "DOID:0061077",
    "recommended_name": {
        "id": "DOID:0061077",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061077",
        "name": "immunodeficiency 108",
        "description": "A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "DOID:0061077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061077",
            "name": "immunodeficiency 108 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0009842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009842",
            "name": "Pelger-Huet-like anomaly and episodic fever with abdominal pain",
            "description": "An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBP."
        },
        {
            "id": "MONDO:0009842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009842",
            "name": "Pelger-Huet-like anomaly and episodic fever with abdominal pain",
            "description": ""
        },
        {
            "id": "MONDO:0009842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009842",
            "name": "immunodeficiency 108 with autoinflammation",
            "description": ""
        },
        {
            "id": "MIM:260570",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260570",
            "name": "Immunodeficiency 108 with autoinflammation",
            "description": "Immunodeficiency 108 with autoinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061077"
    ],
    "unlinked_id_list": []
}