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