{
    "disease_id": "DOID:0080589", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007306", 
            "name": "Klippel-Feil syndrome 1, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007306", 
            "name": "KFS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007306", 
            "name": "cervical vertebral fusion, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007306", 
            "name": "isolated Klippel-Feil syndrome caused by mutation in GDF6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007306", 
            "name": "GDF6 isolated Klippel-Feil syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007306", 
            "name": "Kfs"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007306", 
            "name": "Klippel-FEIL syndrome 1, autosomal dominant; KFS1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080589", 
        "description": "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080589", 
        "name": "Klippel-Feil syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080589#disease-associations", 
            "id": "0080589", 
            "database": "Alliance of Genome Resources"
        }
    ]
}