{
    "disease_id": "DOID:10426", 
    "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"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:10426", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:10426", 
            "name": "Klippel-Feil and Turner syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:10426", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:10426", 
            "name": "autosomal dominant Klippel-Feil syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:10426", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:10426", 
            "name": "congenital dystrophia brevicollis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:10426", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:10426", 
            "name": "congenital synostosis of cervical vertebrae"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:10426", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:10426", 
            "name": "Klippel-Feil deformity, deafness and facial asymmetry"
        }, 
        {
            "url": "https://www.omim.org/entry/118100", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:118100", 
            "name": "Klippel-Feil syndrome 1, autosomal dominant"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:10426", 
        "description": "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.", 
        "resource": "Disease Ontology", 
        "id": "DOID:10426", 
        "name": "Klippel-Feil syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/118100", 
            "id": "118100", 
            "database": "MIM"
        }
    ]
}