{
  "id": 24511,
  "label": "microcephaly with lissencephaly and/or hydranencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700116",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [
    {
      "id": 12604,
      "label": "NDE1-related microhydranencephaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16438,
        24511
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010216",
          "MEDGEN:341899",
          "MESH:C537555",
          "OMIM:605013",
          "Orphanet:443162",
          "UMLS:C1857977"
        ],
        "synonyms": [
          "MHAC",
          "hydranencephaly and microcephaly",
          "microhydranencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011504"
    },
    {
      "id": 14556,
      "label": "lissencephaly 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16115,
        24511
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013527"
    }
  ],
  "roots": [
    {
      "id": 3394,
      "label": "microcephaly"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}