{
    "disease_id": "DOID:0111138", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "CAVIN1 congenital generalized lipodystrophy (disease)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "CGL4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "BSCL4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "generalized congenital lipodystrophy with myopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "GCL4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "lipodystrophy, congenital generalized, type 4; CGL4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "Brunzell syndrome AGPAT2-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "generalized congenital lipodystrophy type 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013225", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013225", 
            "name": "lipodystrophy, congenital generalized, type 4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111138", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111138", 
            "name": "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111138", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111138", 
            "name": "congenital generalised lipodystrophy type 4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111138", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111138", 
            "name": "generalised congenital lipodystrophy type 4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111138", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111138", 
            "name": "generalised congenital lipodystrophy with myopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111138", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111138", 
            "name": "generalized congenital lipodystrophy type 4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111138", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111138", 
            "name": "generalized congenital lipodystrophy with myopathy"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111138", 
        "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111138", 
        "name": "congenital generalized lipodystrophy type 4"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111138#disease-associations", 
            "id": "0111138", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
