{
    "disease_id": "DOID:0111337",
    "recommended_name": {
        "id": "DOID:0111337",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111337",
        "name": "Jackson-Weiss syndrome",
        "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111337",
            "name": "JWS",
            "description": ""
        },
        {
            "id": "DOID:0111337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111337",
            "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007400",
            "name": "Jackson-Weiss syndrome",
            "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients."
        },
        {
            "id": "MONDO:0007400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007400",
            "name": "JWS",
            "description": ""
        },
        {
            "id": "MONDO:0007400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007400",
            "name": "Jackson-Weiss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007400",
            "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome",
            "description": ""
        },
        {
            "id": "MIM:123150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/123150",
            "name": "Jackson-Weiss syndrome",
            "description": "Jackson-Weiss syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111337"
    ],
    "unlinked_id_list": []
}
