{
  "id": 23452,
  "label": "inherited dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044807",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 24,
  "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"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9253,
      "label": "lymphatic malformation 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2944,
        19154,
        23165,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070213",
          "GARD:0003324",
          "MEDGEN:1648463",
          "MESH:C562467",
          "MedDRA:10027138",
          "OMIM:153200",
          "Orphanet:90186",
          "SCTID:400040008",
          "UMLS:C4746631"
        ],
        "synonyms": [
          "LMPH2",
          "Meige disease",
          "Meige lymphedema",
          "hereditary lymphedema type II",
          "late-onset primary lymphedema",
          "lymphedema hereditary type 2",
          "lymphedema praecox",
          "lymphedema, hereditary, II",
          "lymphedema, late-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007920"
    },
    {
      "id": 10650,
      "label": "Woodhouse-Sakati syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16526,
        18404,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112264",
          "GARD:0005592",
          "ICD9:759.89",
          "MEDGEN:83337",
          "MESH:C536742",
          "OMIM:241080",
          "Orphanet:3464",
          "SCTID:237616002",
          "UMLS:C0342286",
          "icd11.foundation:1893572805"
        ],
        "synonyms": [
          "Woodhouse-Sakati syndrome",
          "diabetes-hypogonadism-deafness-intellectual disability syndrome",
          "woodhouse-Sakati syndrome",
          "extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia",
          "extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia",
          "hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome",
          "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome",
          "hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities",
          "hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities",
          "woodhouse Sakati syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009419"
    },
    {
      "id": 11503,
      "label": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3128,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112123",
          "GARD:0017592",
          "MEDGEN:812964",
          "MESH:C564508",
          "OMIM:300475",
          "Orphanet:369939",
          "UMLS:C3806634"
        ],
        "synonyms": [
          "deafness, dystonia, and cerebral hypomyelination, X-linked recessive",
          "DDCH",
          "contiguous ABCD1/Dxs1375E deletion syndrome",
          "deafness, dystonia, and cerebral hypomyelination"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010334"
    },
    {
      "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": 12904,
      "label": "developmental malformations-deafness-dystonia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16089,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009818",
          "MEDGEN:1848671",
          "MESH:C537704",
          "OMIM:607371",
          "Orphanet:79107",
          "UMLS:C5848323"
        ],
        "synonyms": [
          "DJO",
          "dystonia, juvenile-onset",
          "juvenile-onset dystonia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011823"
    },
    {
      "id": 14034,
      "label": "dopa-responsive dystonia due to sepiapterin reductase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17241,
        23452,
        23510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111168",
          "GARD:0010365",
          "ICD9:277.89",
          "MEDGEN:120642",
          "MESH:C562657",
          "NANDO:1200982",
          "NORD:1885",
          "OMIM:612716",
          "Orphanet:70594",
          "SCTID:45116002",
          "UMLS:C0268468"
        ],
        "synonyms": [
          "DRD due to SRD",
          "DYT-SPR",
          "SPR deficiency",
          "SRD",
          "Sepiapterin Reductase Deficiency",
          "autosomal recessive sepiapterin reductase-deficient DRD",
          "dopa-responsive dystonia due to sepiapterin reductase deficiency",
          "sepiapterin reductase deficiency",
          "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012994"
    },
    {
      "id": 15555,
      "label": "ataxia - oculomotor apraxia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19714,
        19748,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081383",
          "GARD:0013111",
          "MEDGEN:902323",
          "OMIM:616267",
          "Orphanet:459033",
          "UMLS:C4225397"
        ],
        "synonyms": [
          "AOA4",
          "PNKP oculomotor apraxia or related oculomotor disease",
          "ataxia - oculomotor apraxia type 4",
          "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP",
          "ataxia-oculomotor apraxia 4",
          "ataxia-oculomotor apraxia-4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014557"
    },
    {
      "id": 15870,
      "label": "striatonigral degeneration, childhood-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5100,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017918",
          "MEDGEN:934710",
          "OMIM:617054",
          "Orphanet:497906",
          "UMLS:C4310743"
        ],
        "synonyms": [
          "Lenk-Ploski syndrome",
          "SNDC",
          "childhood-onset basal ganglia degeneration syndrome",
          "striatonigral Degeneration, childhood-onset",
          "striatonigral degeneration, childhood-onset; SNDC"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014889"
    },
    {
      "id": 15979,
      "label": "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18473,
        21292,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081419",
          "GARD:0013488",
          "MEDGEN:934601",
          "OMIM:617282",
          "Orphanet:508093",
          "UMLS:C4310634"
        ],
        "synonyms": [
          "DYTOABG",
          "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
          "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG",
          "dystonia 29, childhood-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015003"
    },
    {
      "id": 15980,
      "label": "dystonia 28, childhood-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060936",
          "EFO:0009301",
          "GARD:0022359",
          "MEDGEN:934600",
          "OMIM:617284",
          "Orphanet:589618",
          "UMLS:C4310633"
        ],
        "synonyms": [
          "DYT28",
          "KMT2B dystonic disorder",
          "dystonia 28, childhood-onset",
          "dystonia 28, childhood-onset; DYT28",
          "dystonic disorder caused by mutation in KMT2B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015004"
    },
    {
      "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"
    },
    {
      "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"
    },
    {
      "id": 21716,
      "label": "dystonia 30",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060937",
          "GARD:0025479",
          "MEDGEN:1785079",
          "OMIM:619291",
          "UMLS:C5543312"
        ],
        "synonyms": [
          "DYT30"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0025691"
    },
    {
      "id": 21925,
      "label": "dystonia 31",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060938",
          "GARD:0025566",
          "MEDGEN:1794211",
          "OMIM:619565",
          "UMLS:C5562001"
        ],
        "synonyms": [
          "DYT31"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030455"
    },
    {
      "id": 21942,
      "label": "dystonia 32",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452,
        24338
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060939",
          "GARD:0025578",
          "MEDGEN:1794239",
          "OMIM:619637",
          "UMLS:C5562029"
        ],
        "synonyms": [
          "DYT32"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030486"
    },
    {
      "id": 21958,
      "label": "dystonia 33",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060940",
          "GARD:0025587",
          "MEDGEN:1794264",
          "OMIM:619687",
          "UMLS:C5562054"
        ],
        "synonyms": [
          "DYT33"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030513"
    },
    {
      "id": 21976,
      "label": "dystonia 34, myoclonic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060957",
          "GARD:0025599",
          "MEDGEN:1805016",
          "OMIM:619724",
          "UMLS:C5676907"
        ],
        "synonyms": [
          "DYT34"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030538"
    },
    {
      "id": 22148,
      "label": "dystonia 35, childhood-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060955",
          "GARD:0025668",
          "MEDGEN:1801185",
          "OMIM:619921",
          "UMLS:C5677003"
        ],
        "synonyms": [
          "DYT35",
          "dystonia 35, childhood-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030958"
    },
    {
      "id": 23454,
      "label": "familial idiopathic torsion dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452,
        23453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025912",
          "ICD10CM:G24.1",
          "MEDGEN:95980",
          "NCIT:C35437",
          "SCTID:230318005",
          "UMLS:C0393598"
        ],
        "synonyms": [
          "familial Idiopathic dystonia",
          "hereditary idiopathic torsion dystonia",
          "idiopathic familial dystonia",
          "genetic torsion dystonia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044816"
    },
    {
      "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"
    },
    {
      "id": 25658,
      "label": "dystonia 37, early-onset, with striatal lesions",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060956",
          "GARD:0026819",
          "MEDGEN:1841228",
          "OMIM:620427",
          "UMLS:C5830592"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957385"
    },
    {
      "id": 25711,
      "label": "dystonia 22, juvenile-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060966",
          "GARD:0026859",
          "MEDGEN:1841281",
          "OMIM:620453",
          "UMLS:C5830645"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957539"
    },
    {
      "id": 25714,
      "label": "dystonia 22, adult-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060967",
          "GARD:0026861",
          "MEDGEN:1841294",
          "OMIM:620456",
          "UMLS:C5830658"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957542"
    },
    {
      "id": 26027,
      "label": "autosomal dominant dopa-responsive dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17241,
        18954,
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027165",
          "Orphanet:98808",
          "icd11.foundation:1143673207"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age."
      },
      "child_count": 6,
      "reference_id": "MONDO:0971063"
    }
  ],
  "roots": [
    {
      "id": 5367,
      "label": "dystonic disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}