{
    "disease_id": "DOID:0111731",
    "recommended_name": {
        "id": "DOID:0111731",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111731",
        "name": "familial episodic pain syndrome 3",
        "description": "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "DOID:0111731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111731",
            "name": "FEPS3",
            "description": ""
        },
        {
            "id": "MONDO:0014247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014247",
            "name": "familial episodic pain syndrome with predominantly lower limb involvement",
            "description": "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age."
        },
        {
            "id": "MONDO:0014247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014247",
            "name": "episodic pain syndrome, familial, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014247",
            "name": "FEPS3",
            "description": ""
        },
        {
            "id": "MONDO:0014247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014247",
            "name": "episodic pain syndrome, familial, 3",
            "description": ""
        },
        {
            "id": "MIM:615552",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615552",
            "name": "Episodic pain syndrome, familial, 3",
            "description": "Episodic pain syndrome, familial, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111731"
    ],
    "unlinked_id_list": []
}