{
  "id": 16634,
  "label": "focal, segmental or multifocal dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015990",
  "properties": {
    "xrefs": [
      "GARD:0018749",
      "MEDGEN:1842644",
      "Orphanet:1866",
      "UMLS:C5680914"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 16326,
      "label": "isolated dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019985",
          "MEDGEN:1842310",
          "Orphanet:156159",
          "UMLS:C5679608"
        ],
        "synonyms": [
          "Pure dystonia",
          "isolated dystonic disorder",
          "nonsyndromic dystonia (disease)",
          "nonsyndromic dystonic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia (disease) that is not part of a larger syndrome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015494"
    }
  ],
  "children": [
    {
      "id": 8879,
      "label": "torsion dystonia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090041",
          "GARD:0010138",
          "MEDGEN:342124",
          "NANDO:1200515",
          "OMIM:128101",
          "Orphanet:98805",
          "SCTID:719276005",
          "UMLS:C1851943"
        ],
        "synonyms": [
          "DYT4",
          "hereditary whispering dysphonia",
          "torsion dystonia type 4",
          "whispering dysphonia",
          "autosomal dominant torsion dystonia-4",
          "dystonia 4, torsion, autosomal dominant",
          "dystonia musculorum deformans 4",
          "primary dystonia, DYT4 type",
          "whispering dysphonia, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007493"
    },
    {
      "id": 10385,
      "label": "torsion dystonia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16634,
        29328
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090038",
          "GARD:0002028",
          "MEDGEN:346511",
          "MESH:C538006",
          "NANDO:1200513",
          "NCIT:C123415",
          "OMIM:224500",
          "Orphanet:99657",
          "UMLS:C1857093"
        ],
        "synonyms": [
          "DYT2",
          "HPCA dystonic disorder",
          "autosomal recessive torsion dystonia 2",
          "dystonic disorder caused by mutation in HPCA",
          "torsion dystonia type 2",
          "dystonia 2, torsion, autosomal recessive",
          "dystonia musculorum deformans type 2",
          "torsion dystonia 2, autosomal recessive type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009141"
    },
    {
      "id": 12963,
      "label": "torsion dystonia 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090037",
          "GARD:0010537",
          "MEDGEN:335918",
          "MESH:C564354",
          "NANDO:1200527",
          "OMIM:607671",
          "Orphanet:98807",
          "SCTID:719278006",
          "UMLS:C1843264"
        ],
        "synonyms": [
          "DYT13",
          "primary dystonia with mixed phenotype",
          "primary torsion dystonia with predominant craniocervical or upper limb onset",
          "torsion dystonia type 13",
          "dystonia 13, torsion, autosomal dominant",
          "primary dystonia, DYT13 type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011886"
    },
    {
      "id": 13935,
      "label": "torsion dystonia 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090042",
          "GARD:0010536",
          "MEDGEN:391003",
          "MESH:C567319",
          "NANDO:1200530",
          "OMIM:612406",
          "Orphanet:370103",
          "UMLS:C2676281"
        ],
        "synonyms": [
          "dystonia-17, primary torsion",
          "torsion dystonia type 17",
          "DYT17",
          "dystonia 17, torsion, autosomal recessive",
          "primary dystonia, DYT17 type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012895"
    },
    {
      "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": 15029,
      "label": "dystonia 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090052",
          "GARD:0017693",
          "MEDGEN:767288",
          "OMIM:615034",
          "Orphanet:420485",
          "UMLS:C3554374"
        ],
        "synonyms": [
          "ANO3 dystonic disorder",
          "DYT-ANO3",
          "DYT24",
          "dystonia 24",
          "dystonia type 24",
          "dystonic disorder caused by mutation in ANO3",
          "cranio-cervical dystonia with laryngeal and upper-limb involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014019"
    },
    {
      "id": 15043,
      "label": "dystonia 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2937,
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090055",
          "GARD:0010667",
          "MEDGEN:930339",
          "OMIM:615073",
          "Orphanet:329466",
          "UMLS:C4304670"
        ],
        "synonyms": [
          "GNAL dystonic disorder",
          "dystonia 25",
          "dystonia type 25",
          "dystonic disorder caused by mutation in GNAL",
          "DYT25",
          "autosomal dominant focal dystonia, DYT25 type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014033"
    },
    {
      "id": 15623,
      "label": "dystonia 27",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2938,
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090050",
          "GARD:0017819",
          "MEDGEN:907580",
          "OMIM:616411",
          "Orphanet:464440",
          "UMLS:C4225336"
        ],
        "synonyms": [
          "COL6A3 dystonic disorder",
          "dystonia 27",
          "dystonia type 27",
          "dystonic disorder caused by mutation in COL6A3",
          "DYT27",
          "primary dystonia, DYT27 type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014627"
    },
    {
      "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": 19522,
      "label": "blepharospasm-oromandibular dystonia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3982",
          "GARD:0007008",
          "MEDGEN:44341",
          "MESH:D008538",
          "NORD:1425",
          "Orphanet:93964",
          "SCTID:230325003",
          "UMLS:C0025183"
        ],
        "synonyms": [
          "Meige Syndrome",
          "Meige dystonia",
          "Meige syndrome",
          "Brueghel syndrome",
          "Meige's syndrome",
          "blepharospasm - oromandibular dystonia",
          "blepharospasm-oromandibular dystonia",
          "idiopathic blepharospasm-oromandibular dystonia syndrome",
          "oral facial dystonia",
          "segmental cranial dystonia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019772"
    },
    {
      "id": 23369,
      "label": "infantile-onset generalized dyskinesia with orofacial involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017905",
          "MEDGEN:1798887",
          "OMIM:616921",
          "Orphanet:494526",
          "UMLS:C5567464"
        ],
        "synonyms": [
          "IOLOD",
          "dyskinesia, limb and orofacial, infantile-onset",
          "infantile-onset orofacial-trunk-limbs dyskinesia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044637"
    },
    {
      "id": 23773,
      "label": "adult-onset segmental dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2938,
        16634
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "DYT-GNAL",
          "an adult-onset, focal or segmental, isolated dystonia that is characterised by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years).",
          "an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years)."
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100015"
    }
  ],
  "roots": [
    {
      "id": 16326,
      "label": "isolated dystonia"
    }
  ]
}