{
    "disease_id": "DOID:0080249",
    "recommended_name": {
        "id": "DOID:0080249",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080249",
        "name": "erythrokeratodermia variabilis et progressiva 3",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0033013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033013",
            "name": "erythrokeratodermia variabilis et progressiva 3",
            "description": ""
        },
        {
            "id": "MONDO:0033013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033013",
            "name": "EKVP3",
            "description": ""
        },
        {
            "id": "MIM:617525",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617525",
            "name": "Erythrokeratodermia variabilis et progressiva 3",
            "description": "Erythrokeratodermia variabilis et progressiva 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080249"
    ],
    "unlinked_id_list": []
}