{
    "disease_id": "DOID:0060696",
    "recommended_name": {
        "id": "DOID:0060696",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060696",
        "name": "hyperekplexia 1",
        "description": "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "DOID:0060696",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060696",
            "name": "HKPX1",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia 1",
            "description": "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "HKPX1",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia, hereditary type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia, hereditary 1",
            "description": ""
        },
        {
            "id": "MIM:149400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/149400",
            "name": "Hyperekplexia 1",
            "description": "Hyperekplexia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060696"
    ],
    "unlinked_id_list": []
}