{
    "disease_id": "DOID:0060697",
    "recommended_name": {
        "id": "DOID:0060697",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060697",
        "name": "hyperekplexia 2",
        "description": "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32."
    },
    "synonyms": [
        {
            "id": "DOID:0060697",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060697",
            "name": "HKPX2",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "hyperekplexia 2",
            "description": "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene."
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "HKPX2",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "hereditary hyperekplexia caused by mutation in GLRB",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "hyperekplexia 2",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "GLRB hereditary hyperekplexia",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "hyperekplexia 2; HKPX2",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "hyperekplexia type 2",
            "description": ""
        },
        {
            "id": "MIM:614619",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614619",
            "name": "Hyperekplexia 2",
            "description": "Hyperekplexia 2"
        }
    ]
}