{
    "disease_id": "DOID:0050658",
    "recommended_name": {
        "id": "DOID:0050658",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050658",
        "name": "Bart-Pumphrey syndrome",
        "description": "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0050658",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050658",
            "name": "KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS",
            "description": ""
        },
        {
            "id": "MONDO:0007866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007866",
            "name": "Bart-Pumphrey syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007866",
            "name": "Bart-Pumphrey syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007866",
            "name": "knuckle pads, leukonychia, and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0007866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007866",
            "name": "knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007866",
            "name": "knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007866",
            "name": "knuckle pads, leuconychia and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MIM:149200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/149200",
            "name": "Bart-Pumphrey syndrome",
            "description": "Bart-Pumphrey syndrome"
        }
    ]
}