{
    "disease_id": "DOID:0080592",
    "recommended_name": {
        "id": "DOID:0080592",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080592",
        "name": "Klippel-Feil syndrome 4",
        "description": "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014689",
            "name": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014689",
            "name": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014689",
            "name": "KFS4",
            "description": ""
        },
        {
            "id": "MONDO:0014689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014689",
            "name": "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism",
            "description": ""
        },
        {
            "id": "MIM:616549",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616549",
            "name": "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism",
            "description": "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080592"
    ],
    "unlinked_id_list": []
}