{
    "disease_id": "DOID:0111699",
    "recommended_name": {
        "id": "DOID:0111699",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111699",
        "name": "Van den Ende-Gupta syndrome",
        "description": "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in SCARF2 on chromosome 22q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111699",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111699",
            "name": "VDEGS",
            "description": ""
        },
        {
            "id": "DOID:0111699",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111699",
            "name": "blepharophimosis, arachnodactyly, and congenital contractures",
            "description": ""
        },
        {
            "id": "DOID:0111699",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111699",
            "name": "Marden-Walker-like syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111699",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111699",
            "name": "Marden-Walker-like syndrome without psychmotor retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "van den Ende-Gupta syndrome",
            "description": "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features."
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "VAN DEN Ende-Gupta syndrome; VDEGS",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "Van den Ende Gupta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "van den Ende-Gupta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "VDEGS",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "blepharophimosis, arachnodactyly, and congenital contractures",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "Marden-Walker-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "Marden Walker like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "Marden-Walker-like syndrome without psychomotor retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010959",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010959",
            "name": "Marden Walker like syndrome without psychomotor retardation",
            "description": ""
        },
        {
            "id": "MIM:600920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600920",
            "name": "Van den Ende-Gupta syndrome",
            "description": "Van den Ende-Gupta syndrome"
        }
    ]
}