{
  "id": 26027,
  "label": "autosomal dominant dopa-responsive dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0971063",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17241,
      "label": "dopa-responsive dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012144",
          "MESH:C538007",
          "NANDO:1200516",
          "NANDO:2200885",
          "NCIT:C116719",
          "Orphanet:255",
          "SCTID:230332007",
          "icd11.foundation:1534901505"
        ],
        "synonyms": [
          "DYT5 dystonia",
          "HPD with diurnal fluctuation",
          "Segawa's disease",
          "dopa-responsive dystonia",
          "hereditary progressive dystonia with diurnal fluctuation",
          "DYT-GCH1 (subtype)",
          "DYT-SPR (subtype)",
          "DYT-TH (subtype)",
          "DYT5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016812"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "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": 8880,
      "label": "dystonia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23926,
        26027
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090043",
          "GARD:0009817",
          "MEDGEN:342121",
          "NANDO:1200516",
          "NORD:1702",
          "OMIM:128230",
          "SCTID:715768000",
          "UMLS:C1851920"
        ],
        "synonyms": [
          "DYT-GCH1",
          "Dopa-responsive dystonia, autosomal dominant",
          "GTP cyclohydrolase 1-deficient dopa-responsive dystonia",
          "Segawa Syndrome",
          "Segawa syndrome, autosomal dominant",
          "dystonia 5",
          "dystonia type 5",
          "dystonia, DOPA-responsive, with or without hyperphenylalaninemia",
          "dystonia, Dopa-responsive, autosomal dominant",
          "dystonia, progressive, with diurnal variation",
          "dystonia-Parkinsonism with diurnal fluctuation",
          "DRD",
          "Dopa-responsive dystonia; Segawa syndrome AD",
          "dystonia, DOPA-responsive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007495"
    },
    {
      "id": 25399,
      "label": "intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        26027
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027148",
          "MEDGEN:1805453",
          "OMIM:619911",
          "Orphanet:660017",
          "UMLS:C5677001"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0859257"
    }
  ],
  "roots": [
    {
      "id": 17241,
      "label": "dopa-responsive dystonia"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 23452,
      "label": "inherited dystonia"
    }
  ]
}