{
  "id": 12648,
  "label": "TH-deficient dopa-responsive dystonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011551",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 17628,
      "label": "disorder of tyrosine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19099,
        23517
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021127",
          "ICD9:270.2",
          "MEDGEN:541330",
          "Orphanet:284818",
          "SCTID:37200009",
          "UMLS:C0268482",
          "icd11.foundation:1842978338"
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0017307"
    },
    {
      "id": 23816,
      "label": "tyrosine hydroxylase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19086
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026032",
          "MEDGEN:1814581",
          "MESH:C537537",
          "NANDO:2200595",
          "NCIT:C157158",
          "UMLS:C5700309",
          "icd11.foundation:247698609"
        ],
        "synonyms": [
          "TH deficiency",
          "tyrosine 3-monooxygenase deficiency",
          "tyrosine Hydroxylase deficiency",
          "tyrosine hydroxylase deficiency"
        ],
        "definition": "Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100064"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17241,
      "label": "dopa-responsive dystonia"
    },
    {
      "id": 17628,
      "label": "disorder of tyrosine metabolism"
    },
    {
      "id": 23816,
      "label": "tyrosine hydroxylase deficiency"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}