{
  "id": 14556,
  "label": "lissencephaly 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013527",
  "properties": {
    "xrefs": [
      "DOID:0112235",
      "GARD:0024934",
      "MEDGEN:462811",
      "OMIM:614019",
      "UMLS:C3151461"
    ],
    "synonyms": [
      "NDE1 lissencephaly (disease)",
      "lissencephaly (disease) caused by mutation in NDE1",
      "lissencephaly 4",
      "lissencephaly 4 (with microcephaly)",
      "lissencephaly type 4",
      "LIS4",
      "lissencephaly 4 with microcephaly",
      "lissencephaly 4, with microcephaly"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any lissencephaly in which the cause of the disease is a mutation in the NDE1 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"
    },
    {
      "id": 24511,
      "label": "microcephaly with lissencephaly and/or hydranencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026362"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700116"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16115,
      "label": "microlissencephaly"
    },
    {
      "id": 24511,
      "label": "microcephaly with lissencephaly and/or hydranencephaly"
    }
  ]
}