{
    "disease_id": "DOID:0070484",
    "recommended_name": {
        "id": "DOID:0070484",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070484",
        "name": "Legius syndrome",
        "description": "A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0070484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070484",
            "name": "LGSS",
            "description": ""
        },
        {
            "id": "DOID:0070484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070484",
            "name": "NF1-like syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070484",
            "name": "neurofibromatosis type 1-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "Legius syndrome",
            "description": "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling."
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "Legius syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "NF1-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "neurofibromatosis 1-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012669",
            "name": "neurofibromatosis type 1 like syndrome",
            "description": ""
        },
        {
            "id": "MIM:611431",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611431",
            "name": "Legius syndrome",
            "description": "Legius syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070484"
    ],
    "unlinked_id_list": []
}
