{
  "id": 11411,
  "label": "heterotopia, periventricular, X-linked dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010233",
  "properties": {
    "xrefs": [
      "GARD:0007371",
      "ICD9:742.4",
      "MEDGEN:376309",
      "OMIM:300049",
      "SCTID:448227009",
      "UMLS:C1848213"
    ],
    "synonyms": [
      "heterotopia, periventricular, 1, X-linked dominant",
      "heterotopia, periventricular, Ehlers-Danlos variant",
      "heterotopia, periventricular, X-linked dominant",
      "BPNH",
      "NHBP",
      "PVNH1",
      "X-linked periventricular heterotopia",
      "bilateral periventricular nodular heterotopia",
      "heterotopia familial nodular",
      "heterotopia periventricular X-linked dominant",
      "heterotopia, familial nodular",
      "heterotopia, periventricular nodular, with Frontometaphyseal dysplasia",
      "nodular heterotopia bilateral periventricular",
      "nodular heterotopia, bilateral periventricular",
      "periventricular nodular heterotopia 1",
      "periventricular nodular heterotopia 4",
      "periventricular nodular heterotopia 4, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "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"
    }
  ]
}