{
    "disease_id": "DOID:0111628",
    "recommended_name": {
        "id": "DOID:0111628",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111628",
        "name": "high myopia-sensorineural deafness syndrome",
        "description": "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111628",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111628",
            "name": "DFNMYP",
            "description": ""
        },
        {
            "id": "DOID:0111628",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111628",
            "name": "deafness and myopia",
            "description": ""
        },
        {
            "id": "DOID:0111628",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111628",
            "name": "deafness and myopia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "high myopia-sensorineural deafness syndrome",
            "description": "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations."
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "deafness and myopia",
            "description": ""
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "DFNMYP",
            "description": ""
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "deafness and myopia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "deafness and myopia; DFNMYP",
            "description": ""
        },
        {
            "id": "MIM:221200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/221200",
            "name": "Deafness and myopia",
            "description": "Deafness and myopia"
        }
    ]
}