{
    "disease_id": "DOID:0080589",
    "recommended_name": {
        "id": "DOID:0080589",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080589",
        "name": "Klippel-Feil syndrome 1",
        "description": "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "Klippel-Feil syndrome 1, autosomal dominant",
            "description": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene."
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "Klippel-Feil Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "GDF6 isolated Klippel-Feil syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "Klippel-Feil syndrome 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "isolated Klippel-Feil syndrome caused by mutation in GDF6",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "KFS1",
            "description": ""
        },
        {
            "id": "MIM:118100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/118100",
            "name": "Klippel-Feil syndrome 1, autosomal dominant",
            "description": "Klippel-Feil syndrome 1, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080589"
    ],
    "unlinked_id_list": []
}