{
    "disease_id": "DOID:0060356",
    "recommended_name": {
        "id": "DOID:0060356",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060356",
        "name": "Vici syndrome",
        "description": "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060356",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060356",
            "name": "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "Vici syndrome",
            "description": "Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency."
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "Vici syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "Dionisi Vici Sabetta Gambarara syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "VICIS",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "corpus callosum agenesis-cataract-immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "Dionisi-Vici-Sabetta-Gambarara syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "Vici syndrome; VICIS",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "absent corpus callosum-cataract-immunodeficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009452",
            "name": "absent corpus callosum cataract immunodeficiency",
            "description": ""
        },
        {
            "id": "MIM:242840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242840",
            "name": "Vici syndrome",
            "description": "Vici syndrome"
        }
    ]
}