{
    "disease_id": "DOID:0111253",
    "recommended_name": {
        "id": "DOID:0111253",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111253",
        "name": "neurofibromatosis 1",
        "description": "A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111253",
            "name": "FSNF",
            "description": ""
        },
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111253",
            "name": "NF1",
            "description": ""
        },
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111253",
            "name": "Peripheral Neurofibromatosis",
            "description": ""
        },
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111253",
            "name": "familial spinal neurofibromatosis",
            "description": ""
        },
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111253",
            "name": "neurofibromatosis type I",
            "description": ""
        },
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111253",
            "name": "von Recklinghausen Disease",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis type 1",
            "description": "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas."
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "peripheral neurofibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "Von Recklinghausen disease",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "Recklinghausen's disease",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "type 1 neurofibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis, type I; NF1",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis type 1 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis, type I",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis, peripheral type",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "von Reklinghausen disease",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "NF1",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0008078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008078",
            "name": "neurofibromatosis, familial spinal",
            "description": ""
        },
        {
            "id": "MONDO:0008078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008078",
            "name": "Fsnf",
            "description": ""
        },
        {
            "id": "MONDO:0008078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008078",
            "name": "neurofibromatosis, familial spinal",
            "description": ""
        },
        {
            "id": "MIM:162200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/162200",
            "name": "Neurofibromatosis 1",
            "description": "Neurofibromatosis 1"
        },
        {
            "id": "MIM:162210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/162210",
            "name": "Familial spinal neurofibromatosis",
            "description": "Familial spinal neurofibromatosis"
        }
    ]
}