{
  "id": 19719,
  "label": "combined dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020065",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 23452,
      "label": "inherited dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5367,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021630",
          "MEDGEN:1842468",
          "NANDO:1200511",
          "NCIT:C35527",
          "OMIMPS:128100",
          "Orphanet:391799",
          "UMLS:C5680022"
        ],
        "synonyms": [
          "familial dystonia",
          "hereditary dystonic disorder",
          "rare genetic dystonia",
          "rare genetic dystonic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 48,
      "reference_id": "MONDO:0044807"
    }
  ],
  "children": [
    {
      "id": 3179,
      "label": "myoclonus-dystonia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19719
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0000903"
    },
    {
      "id": 8881,
      "label": "dystonia 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19719,
        20335,
        24400
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090056",
          "GARD:0009628",
          "MEDGEN:358384",
          "MESH:C538001",
          "NANDO:1200523",
          "NANDO:1200524",
          "NCIT:C157577",
          "OMIM:128235",
          "Orphanet:71517",
          "SCTID:702323008",
          "UMLS:C1868681"
        ],
        "synonyms": [
          "ATP1A3 dystonic disorder",
          "DYT-ATP1A3",
          "DYT12",
          "dystonia 12",
          "dystonia type 12",
          "dystonia-12",
          "dystonic disorder caused by mutation in ATP1A3",
          "RDP",
          "dystonia-Parkinsonism, rapid-onset",
          "rapid-onset dystonia-parkinsonism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007496"
    },
    {
      "id": 11887,
      "label": "X-linked dystonia-parkinsonism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936,
        19719,
        20335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090057",
          "GARD:0010533",
          "MEDGEN:326820",
          "MESH:C564048",
          "NANDO:1200514",
          "NCIT:C126330",
          "OMIM:314250",
          "Orphanet:53351",
          "SCTID:698279003",
          "UMLS:C1839130"
        ],
        "synonyms": [
          "DYT-TAF1",
          "DYT3",
          "Lubag",
          "Lubag syndrome",
          "X-linked dystonia Parkinsonism",
          "XDP",
          "dystonia-Parkinsonism, X-linked, X-linked recessive",
          "X-linked dystonia-Parkinsonism syndrome",
          "X-linked dystonia-parkinsonism/Lubag",
          "X-linked torsion dystonia-Parkinsonism syndrome",
          "dystonia 3, torsion, X-linked",
          "dystonia-Parkinsonism, X-linked",
          "torsion dystonia-Parkinsonism, Filipino type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010747"
    },
    {
      "id": 13829,
      "label": "dystonia 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2937,
        19719,
        20335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090048",
          "GARD:0010539",
          "MEDGEN:436979",
          "MESH:C567430",
          "NANDO:1200529",
          "NCIT:C168729",
          "OMIM:612067",
          "Orphanet:210571",
          "SCTID:722435003",
          "UMLS:C2677567",
          "icd11.foundation:548945828"
        ],
        "synonyms": [
          "DYT-PRKRA",
          "DYT16",
          "PRKRA dystonic disorder",
          "dystonia 16",
          "dystonia type 16",
          "dystonic disorder caused by mutation in PRKRA",
          "early-onset dystonia parkinsonism",
          "Young-onset dystonia-(parkinsonism)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012789"
    },
    {
      "id": 14186,
      "label": "parkinsonism-dystonia, infantile",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19719,
        20335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010484",
          "MEDGEN:413468",
          "MESH:C567730",
          "OMIMPS:613135",
          "Orphanet:238455",
          "UMLS:C2751067"
        ],
        "synonyms": [
          "IPD",
          "PARKINSONISM-dystonia, infantile",
          "PKDYS",
          "Parkinsonism-dystonia infantile",
          "dopamine transporter deficiency syndrome",
          "infantile Parkinsonism-dystonia",
          "parkinsonism-dystonia, infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."
      },
      "child_count": 9,
      "reference_id": "MONDO:0013150"
    },
    {
      "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": 18356,
      "label": "infantile epileptic-dyskinetic encephalopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19719
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017582",
          "MEDGEN:1637882",
          "MESH:C567924",
          "Orphanet:364063",
          "UMLS:C4552072"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018226"
    },
    {
      "id": 18385,
      "label": "ataxia - telangiectasia variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19719
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021597",
          "MEDGEN:406286",
          "Orphanet:370109",
          "UMLS:C1876175"
        ],
        "synonyms": [
          "v-AT"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018266"
    },
    {
      "id": 18386,
      "label": "combined cervical dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19719
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025128",
          "Orphanet:370114"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018267"
    },
    {
      "id": 18516,
      "label": "dystonia-aphonia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19719
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021739",
          "MEDGEN:1675660",
          "Orphanet:412217",
          "UMLS:C5190573"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018476"
    }
  ],
  "roots": [
    {
      "id": 23452,
      "label": "inherited dystonia"
    }
  ]
}