{
  "id": 3179,
  "label": "myoclonus-dystonia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000903",
  "properties": {
    "xrefs": [
      "DOID:0090033",
      "GARD:0007139",
      "ICD9:333.99",
      "MESH:C536096",
      "NANDO:1200522",
      "Orphanet:36899",
      "SCTID:439732004"
    ],
    "synonyms": [
      "DYT-SGCE",
      "dystonia with myoclonus",
      "hereditary essential myoclonus",
      "myoclonic dystonia",
      "myoclonus-dystonia syndrome",
      "DYT11",
      "Hereditary essential myoclonus",
      "alcohol-responsive dystonia",
      "dystonia 11",
      "dystonia 11, myoclonic",
      "dystonia, alcohol responsive",
      "dystonia, alcohol-responsive",
      "dystonia-11, myoclonic",
      "myoclonus, hereditary essential",
      "myoclonus-Dystonia",
      "myoclonus-dystonia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19719,
      "label": "combined dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019432",
          "MEDGEN:1842879",
          "Orphanet:98203",
          "UMLS:C5680244"
        ],
        "synonyms": [
          "dystonia-plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0020065"
    }
  ],
  "children": [
    {
      "id": 9367,
      "label": "myoclonic dystonia 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3179
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090034",
          "GARD:0018616",
          "MEDGEN:331778",
          "OMIM:159900",
          "UMLS:C1834570"
        ],
        "synonyms": [
          "SGCE myoclonus-dystonia syndrome",
          "alcohol-responsive dystonia",
          "dystonia-11, myoclonic",
          "myoclonic dystonia 11",
          "myoclonic dystonia type 11",
          "myoclonus-dystonia syndrome caused by mutation in SGCE",
          "DYT11",
          "dystonia 11, myoclonic",
          "dystonia, alcohol-responsive",
          "myoclonic dystonia",
          "myoclonus, hereditary essential",
          "myoclonus-dystonia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008044"
    },
    {
      "id": 12925,
      "label": "myoclonic dystonia 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3179
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090035",
          "GARD:0009629",
          "MEDGEN:334492",
          "MESH:C538002",
          "NANDO:1200528",
          "OMIM:607488",
          "Orphanet:210566",
          "UMLS:C1843786"
        ],
        "synonyms": [
          "dystonia-15, myoclonic",
          "myoclonic dystonia type 15",
          "DYT15",
          "dystonia 15, myoclonic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011844"
    },
    {
      "id": 15616,
      "label": "myoclonic dystonia 26",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3179
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090036",
          "GARD:0016103",
          "MEDGEN:904244",
          "OMIM:616398",
          "UMLS:C4225341"
        ],
        "synonyms": [
          "KCTD17 myoclonus-dystonia syndrome",
          "myoclonic dystonia type 26",
          "myoclonus-dystonia syndrome caused by mutation in KCTD17",
          "DYT26",
          "dystonia 26, myoclonic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014620"
    }
  ],
  "roots": [
    {
      "id": 19719,
      "label": "combined dystonia"
    }
  ]
}