{
  "id": 12111,
  "label": "dystonia 9",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010983",
  "properties": {
    "xrefs": [
      "DOID:0090044",
      "GARD:0016656",
      "MEDGEN:371427",
      "MESH:C563401",
      "NANDO:1200520",
      "OMIM:601042",
      "Orphanet:53583",
      "SCTID:715564000",
      "UMLS:C1832855"
    ],
    "synonyms": [
      "DYT9",
      "dystonia 9",
      "dystonia type 9",
      "episodic choreoathetosis/spasticity",
      "Cse choreoathetosis, paroxysmal, with episodic ataxia",
      "choreoathetosis, kinesigenic, with episodic ataxia and spasticity",
      "choreoathetosis/spasticity, episodic",
      "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16691,
      "label": "paroxysmal dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19719
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020340",
          "ICD9:333.99",
          "MEDGEN:97951",
          "Orphanet:200037",
          "SCTID:230310003",
          "UMLS:C0393588",
          "icd11.foundation:2047715743"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016058"
    },
    {
      "id": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021313",
          "MEDGEN:1842168",
          "Orphanet:309001",
          "UMLS:C5681069",
          "icd11.foundation:1315315105"
        ],
        "synonyms": [
          "disorder of carbohydrate absorption and transport"
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0017706"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16691,
      "label": "paroxysmal dystonia"
    },
    {
      "id": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption"
    }
  ]
}