{
  "id": 16848,
  "label": "nodular neuronal heterotopia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016292",
  "properties": {
    "xrefs": [
      "GARD:0016586",
      "MEDGEN:1842941",
      "Orphanet:2149",
      "SCTID:253151003",
      "UMLS:C5680679",
      "icd11.foundation:143592859"
    ],
    "synonyms": [
      "genetic nodular heterotopia",
      "nodular heterotopia",
      "hereditary nodular heterotopia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [
    {
      "id": 16059,
      "label": "sub-cortical nodular heterotopia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16848
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019775",
          "MEDGEN:1843064",
          "Orphanet:101029",
          "UMLS:C5681805",
          "icd11.foundation:1683302159"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015093"
    },
    {
      "id": 16060,
      "label": "subependymal nodular heterotopia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16848
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005050",
          "ICD9:742.4",
          "MEDGEN:781340",
          "MedDRA:10071150",
          "Orphanet:101030",
          "SCTID:699812002",
          "UMLS:C3160906",
          "icd11.foundation:1752491379"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015094"
    },
    {
      "id": 19808,
      "label": "periventricular nodular heterotopia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16848,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050454",
          "GARD:0012724",
          "MEDGEN:358387",
          "MESH:D054091",
          "MedDRA:10066854",
          "NANDO:1201079",
          "OMIMPS:300049",
          "Orphanet:98892",
          "UMLS:C1868720",
          "icd11.foundation:20200096"
        ],
        "synonyms": [
          "periventricular nodular heterotopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020341"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}