{
  "id": 9204,
  "label": "hyperekplexia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007868",
  "properties": {
    "xrefs": [
      "DOID:0060696",
      "GARD:0024583",
      "MEDGEN:1647581",
      "OMIM:149400",
      "UMLS:C4551954"
    ],
    "synonyms": [
      "HKPX1",
      "hyperekplexia 1",
      "hyperekplexia type 1",
      "hyperekplexia, hereditary type 1",
      "Kok disease",
      "Sthe",
      "Stiff-Man syndrome, congenital",
      "Stiff-Person syndrome, congenital",
      "Stiff-baby syndrome",
      "exaggerated startle reaction",
      "hyperekplexia, hereditary 1",
      "startle disease, familial",
      "startle reaction, exaggerated"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20273,
      "label": "hereditary hyperekplexia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17915,
        19114,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060695",
          "GARD:0003129",
          "MEDGEN:904633",
          "OMIMPS:149400",
          "Orphanet:3197",
          "SCTID:724351008",
          "UMLS:C4084968",
          "icd11.foundation:988250063"
        ],
        "synonyms": [
          "hyperekplexia",
          "Kok disease",
          "Stiff baby syndrome",
          "congenital stiff man syndrome",
          "familial startle disease",
          "hereditary hyperekplexia",
          "hereditary hyperexplexia",
          "hyperexplexia hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses."
      },
      "child_count": 15,
      "reference_id": "MONDO:0021022"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20273,
      "label": "hereditary hyperekplexia"
    }
  ]
}