{
  "id": 11416,
  "label": "lissencephaly type 1 due to doublecortin gene mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010239",
  "properties": {
    "xrefs": [
      "DOID:0112239",
      "GARD:0006914",
      "MEDGEN:1644310",
      "OMIM:300067",
      "Orphanet:2148",
      "SCTID:715780008",
      "UMLS:C4551968",
      "icd11.foundation:891064255"
    ],
    "synonyms": [
      "X-linked lissencephaly type 1",
      "lissencephaly type 1 due to doublecortin gene mutation",
      "lissencephaly, X-linked",
      "lissencephaly, X-linked, type 1",
      "subcortical laminal heterotopia, X-linked",
      "Dc syndrome",
      "Double cortex syndrome",
      "LISX",
      "LISX1",
      "X-linked lissencephaly",
      "XLIS",
      "Xlis",
      "lissencephaly X-linked",
      "lissencephaly and agenesis of corpus callosum",
      "lissencephaly, X-linked, 1",
      "subcortical band heterotopia, X-linked",
      "subcortical laminar heterotopia, X-linked",
      "subcortical laminar heterotopia, X-linked,"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16079,
      "label": "classic lissencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005049",
          "MEDGEN:98463",
          "NANDO:1201068",
          "NANDO:1201069",
          "Orphanet:102009",
          "UMLS:C0431375",
          "icd11.foundation:570001324"
        ],
        "synonyms": [
          "lissencephaly type 1",
          "ILS",
          "lissencephaly classic",
          "lissencephaly sequence isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015146"
    },
    {
      "id": 19945,
      "label": "subcortical band heterotopia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4427
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111169",
          "GARD:0001904",
          "MEDGEN:336288",
          "NANDO:1201070",
          "NCIT:C116933",
          "Orphanet:99796",
          "UMLS:C1848201",
          "icd11.foundation:525786944"
        ],
        "synonyms": [
          "double cortex syndrome",
          "subcortical laminar heterotopia",
          "Double cortex",
          "familial band heterotopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A developmental brain abnormality characterized by atypical migration of neurons during cortical development."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020491"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16079,
      "label": "classic lissencephaly"
    },
    {
      "id": 19945,
      "label": "subcortical band heterotopia"
    }
  ]
}