{
  "id": 11539,
  "label": "developmental and epileptic encephalopathy, 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010375",
  "properties": {
    "xrefs": [
      "DOID:0080215",
      "GARD:0017010",
      "MEDGEN:375581",
      "MESH:C564474",
      "OMIM:300607",
      "Orphanet:163985",
      "UMLS:C1845102"
    ],
    "synonyms": [
      "DEE8",
      "EIEE8",
      "developmental and epileptic encephalopathy 8",
      "epileptic encephalopathy, early infantile, 8",
      "epileptic encephalopathy, early infantile, type 8",
      "hyperekplexia-epilepsy syndrome",
      "hyperekplexia and epilepsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16759,
      "label": "X-linked intellectual disability-epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16437,
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016584",
          "MEDGEN:1842841",
          "Orphanet:2076",
          "UMLS:C5680771"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016160"
    },
    {
      "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"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226,
        24340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112202",
          "GARD:0009255",
          "ICD9:345.10",
          "NANDO:1200593",
          "NCIT:C122814",
          "OMIMPS:308350"
        ],
        "synonyms": [
          "developmental and epileptic encephalopathy",
          "hereditary developmental and epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity."
      },
      "child_count": 210,
      "reference_id": "MONDO:0100062"
    },
    {
      "id": 23890,
      "label": "X-linked complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027063"
        ],
        "synonyms": [
          "X-linked complex neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100148"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16759,
      "label": "X-linked intellectual disability-epilepsy syndrome"
    },
    {
      "id": 20273,
      "label": "hereditary hyperekplexia"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    },
    {
      "id": 23890,
      "label": "X-linked complex neurodevelopmental disorder"
    }
  ]
}