{
  "id": 12162,
  "label": "porencephaly-cerebellar hypoplasia-internal malformations syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011036",
  "properties": {
    "xrefs": [
      "GARD:0004437",
      "MEDGEN:331296",
      "MESH:C536336",
      "OMIM:601322",
      "Orphanet:2941",
      "SCTID:763821001",
      "UMLS:C1832472"
    ],
    "synonyms": [
      "Bonnemann-Meinecke syndrome",
      "Bonnemann Meinecke syndrome",
      "porencephaly cerebellar hypoplasia internal malformations",
      "porencephaly, cerebellar hypoplasia, and internal malformations"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}