{
    "disease_id": "DOID:0111138",
    "recommended_name": {
        "id": "DOID:0111138",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111138",
        "name": "congenital generalized lipodystrophy type 4",
        "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "congenital generalised lipodystrophy type 4",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "generalised congenital lipodystrophy type 4",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "generalised congenital lipodystrophy with myopathy",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "generalized congenital lipodystrophy type 4",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "generalized congenital lipodystrophy with myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "congenital generalized lipodystrophy type 4",
            "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene."
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "BSCL4",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "CAVIN1 congenital generalised lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "CAVIN1 congenital generalized lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "CGL4",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "GCL4",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "lipodystrophy, congenital generalized, type 4",
            "description": ""
        },
        {
            "id": "MIM:613327",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613327",
            "name": "Lipodystrophy, congenital generalized, 4",
            "description": "Lipodystrophy, congenital generalized, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111138"
    ],
    "unlinked_id_list": []
}