{
    "disease_id": "DOID:0080590",
    "recommended_name": {
        "id": "DOID:0080590",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080590",
        "name": "Klippel-Feil syndrome 2",
        "description": "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "Klippel-Feil syndrome 2, autosomal recessive",
            "description": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene."
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "KFS2",
            "description": ""
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "Kfs, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "cervical vertebral fusion, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "MEOX1 isolated Klippel-Feil syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "isolated Klippel-Feil syndrome caused by mutation in MEOX1",
            "description": ""
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "Klippel-FEIL syndrome 2, autosomal recessive; KFS2",
            "description": ""
        },
        {
            "id": "MONDO:0008958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008958",
            "name": "Klippel-Feil syndrome 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:214300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214300",
            "name": "Klippel-Feil syndrome 2, autosomal recessive",
            "description": "Klippel-Feil syndrome 2, autosomal recessive"
        }
    ]
}