{
    "disease_id": "DOID:0080249", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033013", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033013", 
            "name": "erythrokeratodermia variabilis ET progressiva 3; EKVP3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033013", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033013", 
            "name": "EKVP3"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080249", 
        "description": "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080249", 
        "name": "erythrokeratodermia variabilis et progressiva 3"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080249#disease-associations", 
            "id": "0080249", 
            "database": "Alliance of Genome Resources"
        }
    ]
}