{
  "id": 15944,
  "label": "periventricular nodular heterotopia 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014966",
  "properties": {
    "xrefs": [
      "GARD:0016210",
      "MEDGEN:934636",
      "OMIM:617201",
      "UMLS:C4310669"
    ],
    "synonyms": [
      "NEDD4L periventricular nodular heterotopia",
      "PVNH7",
      "periventricular nodular heterotopia 7",
      "periventricular nodular heterotopia 7; PVNH7",
      "periventricular nodular heterotopia caused by mutation in NEDD4L",
      "periventricular nodular heterotopia type 7"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19808,
      "label": "periventricular nodular heterotopia"
    }
  ]
}