{
    "disease_id": "DOID:0111253",
    "recommended_name": {
        "id": "DOID:0111253",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111253",
        "name": "neurofibromatosis 1",
        "description": "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone."
    },
    "synonyms": [
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111253",
            "name": "NF1",
            "description": ""
        },
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111253",
            "name": "Peripheral Neurofibromatosis",
            "description": ""
        },
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111253",
            "name": "neurofibromatosis type I",
            "description": ""
        },
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111253",
            "name": "von Recklinghausen Disease",
            "description": ""
        },
        {
            "id": "DOID:0111253",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111253",
            "name": "Recklinghausen's neurofibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "neurofibromatosis type 1",
            "description": "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",
            "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": "Nf1-Microdeletion syndrome",
            "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 type 1",
            "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, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "nonmosaic NF1",
            "description": ""
        },
        {
            "id": "MONDO:0018975",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018975",
            "name": "nonmosaic 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": "Recklinghausen's disease",
            "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": "type 1 neurofibromatosis",
            "description": ""
        },
        {
            "id": "MIM:162200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/162200",
            "name": "Neurofibromatosis 1",
            "description": "Neurofibromatosis 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070482",
            "label": "spinal neurofibromatosis",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111253",
        "DOID:0070482"
    ],
    "unlinked_id_list": []
}