{
  "id": 24512,
  "label": "SLC6A3-related dopamine transporter deficiency syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700117",
  "properties": {
    "xrefs": [
      "DOID:0070487",
      "GARD:0026363"
    ],
    "synonyms": [
      "DTDS",
      "Dopamine transporter deficiency syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "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": 23638,
      "label": "classic dopamine transporter deficiency syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14186,
        24512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070489",
          "GARD:0025981",
          "MEDGEN:1814585",
          "NCIT:C129866",
          "OMIM:613135",
          "SCTID:722763000",
          "UMLS:C5700336"
        ],
        "synonyms": [
          "PKDYS",
          "PKDYS1",
          "Parkinsonism-dystonia, infantile, 1",
          "classic DTDS",
          "dopamine transporter deficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay."
      },
      "child_count": 0,
      "reference_id": "MONDO:0054835"
    },
    {
      "id": 24595,
      "label": "atypical dopamine transporter deficiency syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070488",
          "GARD:0026372"
        ],
        "synonyms": [
          "atypical DTDS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700200"
    }
  ],
  "roots": [
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}