{
  "id": 17241,
  "label": "dopa-responsive dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016812",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 6795,
      "label": "metabolic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0014667",
          "EFO:0000589",
          "ICD10CM:E70-E88",
          "ICD10WHO:E70-E90",
          "ICD9:277.8",
          "ICD9:277.9",
          "MEDGEN:44376",
          "MESH:D008659",
          "NANDO:1100002",
          "NCIT:C3235",
          "SCTID:75934005",
          "UMLS:C0025517"
        ],
        "synonyms": [
          "disorder of metabolic process",
          "metabolic disease",
          "metabolic disorder",
          "metabolic process disease",
          "disease of metabolism"
        ],
        "definition": "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process."
      },
      "child_count": 37,
      "reference_id": "MONDO:0005066"
    },
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [
    {
      "id": 12648,
      "label": "TH-deficient dopa-responsive dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17241,
        17628,
        23816,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051059",
          "GARD:0001902",
          "MEDGEN:382128",
          "NORD:1810",
          "OMIM:605407",
          "Orphanet:101150",
          "SCTID:715827001",
          "UMLS:C2673535"
        ],
        "synonyms": [
          "DYT5b",
          "Dopa-responsive dystonia, autosomal recessive",
          "Segawa syndrome, recessive",
          "Tyrosine Hydroxylase Deficiency",
          "autosomal recessive Segawa syndrome",
          "autosomal recessive dopa-responsive dystonia",
          "dopa-responsive dystonia, autosomal recessive",
          "tyrosine hydroxylase-deficient dopa-responsive dystonia",
          "DOPA responsive dystonia, autosomal recessive",
          "Parkinsonism, infantile, autosomal recessive",
          "Segawa syndrome, autosomal recessive",
          "dystonia, DOPA responsive, autosomal recessive",
          "dystonia, Dopa-responsive, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011551"
    },
    {
      "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": 23849,
      "label": "dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17241,
        23926,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026046"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100098"
    },
    {
      "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": 6795,
      "label": "metabolic disease"
    },
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}