{
    "disease_id": "DOID:0111137",
    "recommended_name": {
        "id": "DOID:0111137",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111137",
        "name": "congenital generalized lipodystrophy type 3",
        "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111137",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111137",
            "name": "Berardinelli-Seip congenital lipodystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "congenital generalized lipodystrophy type 3",
            "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene."
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "CGL3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "BSCL3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "CAV1 congenital generalized lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "type 3 Berardinelli-Seip congenital lipodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "lipodystrophy, congenital generalized, type 3; CGL3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "lipodystrophy, Berardinelli-Seip congenital, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "Berardinelli-Seip congenital lipodystrophy, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "Berardinelli-Seip congenital lipodystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "lipodystrophy, congenital generalized, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "congenital generalized lipodystrophy (disease) caused by mutation in CAV1",
            "description": ""
        },
        {
            "id": "MIM:612526",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612526",
            "name": "Congenital generalized lipodystrophy 3",
            "description": "Congenital generalized lipodystrophy 3"
        }
    ]
}
