{
  "id": 15140,
  "label": "developmental and epileptic encephalopathy, 16",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014133",
  "properties": {
    "xrefs": [
      "DOID:0080449",
      "GARD:0015945",
      "MEDGEN:815503",
      "OMIM:615338",
      "UMLS:C3809173"
    ],
    "synonyms": [
      "DEE16",
      "EIEE16",
      "developmental and epileptic encephalopathy 16",
      "epileptic encephalopathy, early infantile, 16",
      "epileptic encephalopathy, early infantile, type 16"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17694,
      "label": "malignant migrating partial seizures of infancy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19723
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012919",
          "NANDO:1200595",
          "NCIT:C125387",
          "Orphanet:293181"
        ],
        "synonyms": [
          "MPSI",
          "MMPEI",
          "MMPSI",
          "MPEI",
          "malignant migrating Partial seizures in infancy",
          "malignant migrating partial epilepsy of infancy",
          "migrating Partial seizures in infancy",
          "migrating partial epilepsy of infancy",
          "migrating partial seizures of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017385"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026229"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur."
      },
      "child_count": 20,
      "reference_id": "MONDO:0100455"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17694,
      "label": "malignant migrating partial seizures of infancy"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy"
    }
  ]
}