{
    "disease_id": "DOID:0080248",
    "recommended_name": {
        "id": "DOID:0080248",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080248",
        "name": "erythrokeratodermia variabilis et progressiva 2",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0033012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033012",
            "name": "erythrokeratodermia variabilis et progressiva 2",
            "description": ""
        },
        {
            "id": "MONDO:0033012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033012",
            "name": "erythrokeratodermia variabilis ET progressiva 2; EKVP2",
            "description": ""
        },
        {
            "id": "MONDO:0033012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033012",
            "name": "EKVP2",
            "description": ""
        },
        {
            "id": "MIM:617524",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617524",
            "name": "Erythrokeratodermia variabilis et progressiva 2",
            "description": "Erythrokeratodermia variabilis et progressiva 2"
        }
    ]
}