{
  "id": 15533,
  "label": "lissencephaly 6 with microcephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014534",
  "properties": {
    "xrefs": [
      "DOID:0112236",
      "GARD:0024999",
      "MEDGEN:863962",
      "OMIM:616212",
      "UMLS:C4015525"
    ],
    "synonyms": [
      "KATNB1 Microlissencephaly",
      "KATNB1 microlissencephaly",
      "Microlissencephaly caused by mutation in KATNB1",
      "lissencephaly 6 with microcephaly",
      "lissencephaly 6, with microcephaly",
      "microlissencephaly caused by mutation in KATNB1",
      "LIS6"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16115,
      "label": "microlissencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112234",
          "GARD:0016555",
          "MEDGEN:365439",
          "Orphanet:1083",
          "UMLS:C1956147",
          "icd11.foundation:169315445"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015204"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16115,
      "label": "microlissencephaly"
    }
  ]
}