{
  "id": 2936,
  "label": "focal dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000477",
  "properties": {
    "xrefs": [
      "DOID:0050836",
      "GARD:0027526",
      "MEDGEN:149279",
      "SCTID:445006008",
      "UMLS:C0743332"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A dystonia that is localized to a specific part of the body."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 5367,
      "label": "dystonic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3996
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:543",
          "GARD:0027640",
          "HP:0001332",
          "ICD10CM:G24",
          "ICD9:333.90",
          "MEDGEN:3940",
          "MESH:D020821",
          "NCIT:C34563",
          "SCTID:15802004",
          "UMLS:C0013421"
        ],
        "synonyms": [
          "dystonia",
          "dystonic disorder",
          "dystonia disorder",
          "dystonia disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures."
      },
      "child_count": 8,
      "reference_id": "MONDO:0003441"
    }
  ],
  "children": [
    {
      "id": 2939,
      "label": "anismus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050839",
          "ICD9:569.49",
          "MEDGEN:540810",
          "SCTID:83605009",
          "UMLS:C0267601"
        ],
        "synonyms": [
          "anal region skeletal muscle focal dystonia",
          "focal dystonia of anal region skeletal muscle",
          "dyskinetic puborectalis",
          "dyssynergic defecation",
          "puborectalis syndrome",
          "rectosphincteric dyssynergia",
          "spastic pelvic floor syndrome",
          "sphincteric disobedience syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A focal dystonia of the pelvic floor muscles during attempted defecation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000480"
    },
    {
      "id": 2940,
      "label": "cervical dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050840",
          "GARD:0027529",
          "ICD9:333.83",
          "MEDGEN:101818",
          "NCIT:C85072",
          "Orphanet:93962",
          "SCTID:74333002",
          "UMLS:C0152116",
          "icd11.foundation:1435836279"
        ],
        "synonyms": [
          "spasmodic torticollis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000481"
    },
    {
      "id": 2941,
      "label": "focal hand dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050841",
          "GARD:0027530",
          "ICD9:333.84",
          "MEDGEN:57821",
          "SCTID:52008007",
          "UMLS:C0154676"
        ],
        "synonyms": [
          "hand and arm dystonia",
          "writer's cramp",
          "organic writer's cramp"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000482"
    },
    {
      "id": 2942,
      "label": "oculogyric crisis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050842",
          "GARD:0027531",
          "MEDGEN:43221",
          "UMLS:C0085637",
          "icd11.foundation:1191930451"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000483"
    },
    {
      "id": 2943,
      "label": "spasmodic dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936,
        6195
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050844",
          "GARD:0027260",
          "ICD9:478.79",
          "MEDGEN:409603",
          "MESH:D055154",
          "Orphanet:93961",
          "SCTID:3331000119108",
          "UMLS:C1963946"
        ],
        "synonyms": [
          "laryngeal dyskinesia",
          "laryngeal dystonia",
          "spasmodic dysphonia",
          "spastic dysphonia",
          "abductor spasmodic dysphonia",
          "adductor spasmodic dysphonia",
          "mixed spasmodic dysphonia (type)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000485"
    },
    {
      "id": 2944,
      "label": "craniofacial dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050845",
          "GARD:0027532",
          "MEDGEN:868612",
          "UMLS:C4023011"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck."
      },
      "child_count": 1,
      "reference_id": "MONDO:0000486"
    },
    {
      "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": 12322,
      "label": "torsion dystonia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090040",
          "GARD:0007782",
          "MEDGEN:355560",
          "MESH:C566572",
          "NANDO:1200518",
          "OMIM:602124",
          "Orphanet:93963",
          "UMLS:C1865818"
        ],
        "synonyms": [
          "dystonia-7, torsion",
          "torsion dystonia type 7",
          "DYT7",
          "cervical dystonia, primary",
          "dystonia 7, torsion",
          "torsion dystonia, focal adult-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011200"
    },
    {
      "id": 12815,
      "label": "benign essential blepharospasm",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:529",
          "GARD:0027804",
          "ICD10CM:G24.5",
          "ICD9:333.81",
          "MEDGEN:419660",
          "MESH:D001764",
          "SCTID:59026006",
          "UMLS:C2930898",
          "icd11.foundation:1127235959"
        ],
        "synonyms": [
          "benign essential blepharospasm",
          "blepharospasm",
          "BEB",
          "blepharospasm, benign essential"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Involuntary twitching of the eyelid."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011728"
    },
    {
      "id": 14940,
      "label": "dystonia 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936,
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090051",
          "GARD:0017694",
          "MEDGEN:761274",
          "OMIM:614860",
          "Orphanet:420492",
          "UMLS:C3538999"
        ],
        "synonyms": [
          "DYT23",
          "dystonia 23",
          "dystonia type 23",
          "adult-onset cervical dystonia, DYT23 type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013928"
    },
    {
      "id": 19521,
      "label": "oromandibular dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936,
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050843",
          "GARD:0019243",
          "MEDGEN:473560",
          "Orphanet:93958",
          "UMLS:C2242577",
          "icd11.foundation:749381409"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019771"
    },
    {
      "id": 23458,
      "label": "dystonia, focal, task-specific",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2936,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006458",
          "MEDGEN:370752",
          "MESH:C566973",
          "OMIM:611284",
          "SCTID:230330004",
          "UMLS:C1969807"
        ],
        "synonyms": [
          "FTSD",
          "dystonia, focal, task-specific",
          "musician's cramp",
          "focal hand dystonia",
          "focal task-specific dystonia",
          "musician's dystonia",
          "occupational cramp",
          "occupational dystonia",
          "task-specific dystonia",
          "task-specific focal dystonia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044871"
    }
  ],
  "roots": [
    {
      "id": 5367,
      "label": "dystonic disorder"
    }
  ]
}