{
  "id": 18769,
  "label": "familial schizencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018829",
  "properties": {
    "xrefs": [
      "GARD:0017876",
      "MEDGEN:419186",
      "MESH:C538514",
      "Orphanet:481986",
      "UMLS:C2931870"
    ],
    "synonyms": [
      "familial schizencephaly",
      "hereditary schizencephaly"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An instance of schizencephaly that is caused by an inherited modification of the individual's genome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11205,
      "label": "schizencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        17479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000166",
          "ICD9:742.4",
          "MEDGEN:78606",
          "MESH:D065707",
          "NANDO:1201073",
          "NANDO:2200818",
          "NCIT:C99056",
          "OMIM:269160",
          "Orphanet:799",
          "SCTID:253159001",
          "UMLS:C0266484",
          "icd11.foundation:1693546163"
        ],
        "synonyms": [
          "schizencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010011"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    },
    {
      "id": 25047,
      "label": "COL4A1-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        26572
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028064"
        ],
        "synonyms": [
          "COL4A1-related disorders"
        ],
        "definition": "The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800461"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11205,
      "label": "schizencephaly"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 25047,
      "label": "COL4A1-related disorder"
    }
  ]
}