{
  "id": 19808,
  "label": "periventricular nodular heterotopia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020341",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16848,
      "label": "nodular neuronal heterotopia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016292"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 11411,
      "label": "heterotopia, periventricular, X-linked dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19808
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010233"
    },
    {
      "id": 13037,
      "label": "periventricular heterotopia with microcephaly, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015424",
          "MEDGEN:334110",
          "MESH:C564292",
          "OMIM:608097",
          "UMLS:C1842563"
        ],
        "synonyms": [
          "periventricular heterotopia with microcephaly, autosomal recessive",
          "ARPHM",
          "heterotopia, periventricular, autosomal recessive",
          "periventricular nodular heterotopia 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011966"
    },
    {
      "id": 13038,
      "label": "heterotopia, periventricular, associated with chromosome 5P anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015425",
          "MEDGEN:374963",
          "MESH:C564291",
          "OMIM:608098",
          "UMLS:C1842562"
        ],
        "synonyms": [
          "heterotopia, periventricular, associated with chromosome 5P anomalies",
          "periventricular nodular heterotopia 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011967"
    },
    {
      "id": 14069,
      "label": "chromosome 5Q14.3 deletion syndrome, distal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015589",
          "MEDGEN:442882",
          "MESH:C567876",
          "OMIM:612881",
          "UMLS:C2752071"
        ],
        "synonyms": [
          "chromosome 5Q14.3 deletion syndrome, distal",
          "heterotopia, periventricular, associated with chromosome 5Q deletion",
          "periventricular nodular heterotopia 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013031"
    },
    {
      "id": 15246,
      "label": "periventricular nodular heterotopia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015983",
          "MEDGEN:816202",
          "OMIM:615544",
          "UMLS:C3809872"
        ],
        "synonyms": [
          "ERMARD periventricular nodular heterotopia",
          "periventricular nodular heterotopia 6",
          "periventricular nodular heterotopia caused by mutation in ERMARD",
          "periventricular nodular heterotopia type 6",
          "PVNH6"
        ],
        "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 ERMARD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014240"
    },
    {
      "id": 15944,
      "label": "periventricular nodular heterotopia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19808
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014966"
    },
    {
      "id": 21837,
      "label": "periventricular nodular heterotopia 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061246",
          "GARD:0016394",
          "MEDGEN:1718470",
          "OMIM:618918",
          "UMLS:C5394503"
        ],
        "synonyms": [
          "PERIVENTRICULAR NODULAR HETEROTOPIA 9",
          "PVNH9",
          "periventricular nodular heterotopia 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030061"
    },
    {
      "id": 22276,
      "label": "periventricular nodular heterotopia 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061245",
          "GARD:0016303",
          "MEDGEN:1648287",
          "OMIM:618185",
          "UMLS:C4748602"
        ],
        "synonyms": [
          "PERIVENTRICULAR NODULAR HETEROTOPIA 8",
          "PVNH8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032588"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16848,
      "label": "nodular neuronal heterotopia"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}