{
  "id": 23638,
  "label": "classic dopamine transporter deficiency syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0054835",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14186,
      "label": "parkinsonism-dystonia, infantile",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19719,
        20335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010484",
          "MEDGEN:413468",
          "MESH:C567730",
          "OMIMPS:613135",
          "Orphanet:238455",
          "UMLS:C2751067"
        ],
        "synonyms": [
          "IPD",
          "PARKINSONISM-dystonia, infantile",
          "PKDYS",
          "Parkinsonism-dystonia infantile",
          "dopamine transporter deficiency syndrome",
          "infantile Parkinsonism-dystonia",
          "parkinsonism-dystonia, infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."
      },
      "child_count": 9,
      "reference_id": "MONDO:0013150"
    },
    {
      "id": 24512,
      "label": "SLC6A3-related dopamine transporter deficiency syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700117"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14186,
      "label": "parkinsonism-dystonia, infantile"
    },
    {
      "id": 24512,
      "label": "SLC6A3-related dopamine transporter deficiency syndrome"
    }
  ]
}