{
    "disease_id": "DOID:14775",
    "recommended_name": {
        "id": "DOID:14775",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14775",
        "name": "brittle cornea syndrome 1",
        "description": "An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "DOID:14775",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14775",
            "name": "type VIB Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "brittle cornea syndrome 1",
            "description": "Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene."
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "ZNF469 brittle cornea syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "brittle cornea syndrome 1; BCS1",
            "description": ""
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "brittle cornea syndrome caused by mutation in ZNF469",
            "description": ""
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility",
            "description": ""
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "Ehlers-Danlos syndrome, type Vib, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "dysgenesis Mesodermalis corneae Et sclerae",
            "description": ""
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "BCS1",
            "description": ""
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "Ehlers-Danlos syndrome, type Vib",
            "description": ""
        },
        {
            "id": "MONDO:0024543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024543",
            "name": "Fragilitas oculi with Joint hyperextensibility",
            "description": ""
        },
        {
            "id": "MIM:229200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/229200",
            "name": "Brittle cornea syndrome 1",
            "description": "Brittle cornea syndrome 1"
        }
    ]
}