{
  "id": 14290,
  "label": "microcephaly, seizures, and developmental delay",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013254",
  "properties": {
    "xrefs": [
      "DOID:0080457",
      "GARD:0010933",
      "MEDGEN:462017",
      "OMIM:613402",
      "Orphanet:228418",
      "UMLS:C3150667"
    ],
    "synonyms": [
      "microcephaly, seizures, and developmental delay",
      "EIEE10",
      "MCSZ",
      "early infantile epileptic encephalopathy-10",
      "epileptic encephalopathy, early infantile, 10",
      "microcephaly - seizures - developmental delay"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has material basis in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3394,
      "label": "microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10907",
          "HP:0000252",
          "ICD10CM:Q02",
          "ICD10WHO:Q02",
          "ICD9:742.1",
          "MEDGEN:1644158",
          "MESH:D008831",
          "NCIT:C85874",
          "SCTID:1829003",
          "UMLS:C4551563",
          "icd11.foundation:179350437"
        ],
        "synonyms": [
          "microcephalus",
          "microcephaly",
          "microcephaly (disease)",
          "microencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex."
      },
      "child_count": 20,
      "reference_id": "MONDO:0001149"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3394,
      "label": "microcephaly"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    }
  ]
}