{
    "disease_id": "DOID:12583",
    "recommended_name": {
        "id": "DOID:12583",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:12583",
        "name": "velocardiofacial syndrome",
        "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations."
    },
    "synonyms": [
        {
            "id": "DOID:12583",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12583",
            "name": "Shprintzen syndrome",
            "description": ""
        },
        {
            "id": "DOID:12583",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12583",
            "name": "VCF-Velocardiofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008644",
            "name": "velocardiofacial syndrome",
            "description": "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features."
        },
        {
            "id": "MONDO:0008644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008644",
            "name": "Shprintzen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008644",
            "name": "chromosome 22Q11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008644",
            "name": "VCF syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008644",
            "name": "22q11 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008644",
            "name": "deletion 22q11.2 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008644",
            "name": "VCF-velocardiofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008644",
            "name": "velocardiofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008644",
            "name": "Shprintzen VCF syndrome",
            "description": ""
        },
        {
            "id": "MIM:192430",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/192430",
            "name": "Velocardiofacial syndrome",
            "description": "Velocardiofacial syndrome"
        }
    ]
}