{
    "disease_id": "DOID:0081075",
    "recommended_name": {
        "id": "DOID:0081075",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081075",
        "name": "Marsili syndrome",
        "description": "A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "congenital insensitivity to pain syndrome, Marsili type",
            "description": "A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat."
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "MARSILI syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "MARSIS",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "Marsili syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "congenital analgesia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "indifference to pain, congenital, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0958106",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958106",
            "name": "insensitivity to pain, congenital, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:147430",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/147430",
            "name": "Marsili syndrome",
            "description": "Marsili syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081075"
    ],
    "unlinked_id_list": []
}