{
  "id": 13658,
  "label": "polyhydramnios, megalencephaly, and symptomatic epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012611",
  "properties": {
    "xrefs": [
      "DOID:0070511",
      "GARD:0012913",
      "MEDGEN:370203",
      "MESH:C567020",
      "OMIM:611087",
      "Orphanet:500533",
      "UMLS:C1970203"
    ],
    "synonyms": [
      "PMSE syndrome",
      "polyhydramnios, megalencephaly, and symptomatic epilepsy",
      "PMSE",
      "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome",
      "polyhydramnios-megalencephaly-symptomatic epilepsy syndrome",
      "pretzel syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16437,
      "label": "monogenic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020086",
          "MEDGEN:1842675",
          "Orphanet:166472",
          "UMLS:C5680430"
        ],
        "synonyms": [
          "monogenic disease with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0015653"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 16437,
      "label": "monogenic epilepsy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}