{
    "disease_id": "DOID:0080248", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033012", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033012", 
            "name": "erythrokeratodermia variabilis ET progressiva 2; EKVP2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033012", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033012", 
            "name": "EKVP2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080248", 
        "description": "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080248", 
        "name": "erythrokeratodermia variabilis et progressiva 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080248#disease-associations", 
            "id": "0080248", 
            "database": "Alliance of Genome Resources"
        }
    ]
}