{
  "id": 15629,
  "label": "epilepsy with myoclonic atonic seizures",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014633",
  "properties": {
    "xrefs": [
      "DOID:0060475",
      "GARD:0016108",
      "ICD9:345.10",
      "MEDGEN:98284",
      "OMIM:616421",
      "Orphanet:1942",
      "SCTID:230421008",
      "UMLS:C0393702",
      "icd11.foundation:951920505"
    ],
    "synonyms": [
      "Doose syndrome",
      "EMAS",
      "EMAtS",
      "MAE",
      "Myoclonic Atonic Epilepsy",
      "epilepsy with myoclonic atonic seizures",
      "epilepsy with myoclonic-astatic seizures",
      "epilepsy with myoclonic-atonic seizures",
      "myoclonic atonic epilepsy",
      "myoclonic-astatic epilepsy in early childhood",
      "myoclonic-atonic epilepsy",
      "epilepsy with myoclono-astatic crisis",
      "myoclonic astatic epilepsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    },
    {
      "id": 25084,
      "label": "childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027303"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A childhood-onset epilepsy syndrome where the onset of the condition includes manifestations of cognitive, neurological, or psychiatric impairment, stagnation, or regression, due directly to the underlying etiology. In contrast, an epileptic encephalopathy (EE) is present when the encephalopathy is caused by the epileptic activity. The term developmental and epileptic encephalopathy (DEE) is used when both factors contribute to the patient’s condition."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800500"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 25084,
      "label": "childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy"
    }
  ]
}