{
  "id": 14208,
  "label": "polymicrogyria with optic nerve hypoplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013172",
  "properties": {
    "xrefs": [
      "GARD:0020687",
      "MEDGEN:442565",
      "MESH:C567715",
      "OMIM:613180",
      "Orphanet:250972",
      "UMLS:C2750798"
    ],
    "synonyms": [
      "polymicrogyria with optic nerve hypoplasia",
      "CDCBM8",
      "cortical dysplasia, Complex, with Other brain malformations 8",
      "cortical dysplasia, complex, with other brain malformations 8"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3180,
      "label": "complex cortical dysplasia with other brain malformations",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        20383,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090131",
          "OMIMPS:614039"
        ],
        "synonyms": [
          "complex cortical dysplasia with other brain malformations",
          "cortical dysplasia, complex, with other brain malformations"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 36,
      "reference_id": "MONDO:0000904"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3180,
      "label": "complex cortical dysplasia with other brain malformations"
    }
  ]
}