{
    "disease_id": "DOID:10426",
    "recommended_name": {
        "id": "DOID:10426",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:10426",
        "name": "Klippel-Feil syndrome",
        "description": "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra."
    },
    "synonyms": [
        {
            "id": "DOID:10426",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10426",
            "name": "Klippel-Feil and Turner syndrome",
            "description": ""
        },
        {
            "id": "DOID:10426",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10426",
            "name": "autosomal dominant Klippel-Feil syndrome",
            "description": ""
        },
        {
            "id": "DOID:10426",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10426",
            "name": "congenital dystrophia brevicollis",
            "description": ""
        },
        {
            "id": "DOID:10426",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10426",
            "name": "congenital synostosis of cervical vertebrae",
            "description": ""
        },
        {
            "id": "DOID:10426",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:10426",
            "name": "Klippel-Feil deformity, deafness and facial asymmetry",
            "description": ""
        },
        {
            "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": "KFS1",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "cervical vertebral fusion, 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": "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": "Kfs",
            "description": ""
        },
        {
            "id": "MONDO:0007306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007306",
            "name": "Klippel-FEIL syndrome 1, autosomal dominant; 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"
        }
    ]
}