{
    "disease_id": "DOID:0061191",
    "recommended_name": {
        "id": "DOID:0061191",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061191",
        "name": "neonatal nephrocutaneous inflammatory syndrome",
        "description": "An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11."
    },
    "synonyms": [
        {
            "id": "DOID:0061191",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061191",
            "name": "neonatal inflammatory skin and bowel disease 2",
            "description": ""
        },
        {
            "id": "MONDO:0014481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014481",
            "name": "inflammatory skin and bowel disease, neonatal, 2",
            "description": "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene."
        },
        {
            "id": "MONDO:0014481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014481",
            "name": "EGFR neonatal inflammatory skin and bowel disease",
            "description": ""
        },
        {
            "id": "MONDO:0014481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014481",
            "name": "inflammatory skin and bowel disease, neonatal, 2",
            "description": ""
        },
        {
            "id": "MONDO:0014481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014481",
            "name": "inflammatory skin and bowel disease, neonatal, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014481",
            "name": "neonatal inflammatory skin and bowel disease caused by mutation in EGFR",
            "description": ""
        },
        {
            "id": "MONDO:0014481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014481",
            "name": "NISBD2",
            "description": ""
        },
        {
            "id": "MIM:616069",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616069",
            "name": "Neonatal nephrocutaneous inflammatory syndrome",
            "description": "Neonatal nephrocutaneous inflammatory syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061191"
    ],
    "unlinked_id_list": []
}