{
    "disease_id": "DOID:14768",
    "recommended_name": {
        "id": "DOID:14768",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14768",
        "name": "Saethre-Chotzen syndrome",
        "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull."
    },
    "synonyms": [
        {
            "id": "MONDO:0008391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008391",
            "name": "Robinow-Sorauf syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008391",
            "name": "acrocephalosyndactyly, Robinow-Sorauf type",
            "description": ""
        },
        {
            "id": "MONDO:0008391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008391",
            "name": "Robinow-Sorauf syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008391",
            "name": "craniosynostosis-bifid hallux syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "Saethre-Chotzen syndrome",
            "description": "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations."
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "Saethre-Chotzen syndrome with eyelid anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "Chotzen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "blepharophimosis, epicanthus inversus, and ptosis 3",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "Saethre-Chotzen syndrome; SCS",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "Saethre-Chotzen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "ACS 3",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "SCS",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "type III Acrocephalosyndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "acrocephalosyndactyly type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "ACS3",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "acrocephalosyndactyly type III",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "acrocephaly, skull asymmetry, and mild syndactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "acrocephalo-syndactyly, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "acrocephalosyndactyly, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0007042",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007042",
            "name": "blepharophimosis, epicanthus inversus, and ptosis 3, formerly",
            "description": ""
        },
        {
            "id": "MIM:180750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180750",
            "name": "Robinow-Sorauf syndrome",
            "description": "Robinow-Sorauf syndrome"
        },
        {
            "id": "MIM:101400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/101400",
            "name": "Saethre-Chotzen syndrome",
            "description": "Saethre-Chotzen syndrome"
        }
    ]
}