{
  "id": 14186,
  "label": "parkinsonism-dystonia, infantile",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013150",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 19719,
      "label": "combined dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23452
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019432",
          "MEDGEN:1842879",
          "Orphanet:98203",
          "UMLS:C5680244"
        ],
        "synonyms": [
          "dystonia-plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0020065"
    },
    {
      "id": 20335,
      "label": "parkinsonian disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080855",
          "MEDGEN:66079",
          "MESH:D020734",
          "UMLS:C0242422"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."
      },
      "child_count": 21,
      "reference_id": "MONDO:0021095"
    }
  ],
  "children": [
    {
      "id": 18280,
      "label": "brain dopamine-serotonin vesicular transport disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14186,
        19086
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070490",
          "GARD:0013594",
          "MEDGEN:929215",
          "OMIM:618049",
          "Orphanet:352649",
          "SCTID:717942003",
          "UMLS:C4303546"
        ],
        "synonyms": [
          "PKDYS2",
          "parkinsonism-dystonia, infantile, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018130"
    },
    {
      "id": 21994,
      "label": "parkinsonism-dystonia 3, childhood-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14186
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025606",
          "MEDGEN:1808365",
          "OMIM:619738",
          "UMLS:C5676913"
        ],
        "synonyms": [
          "PKDYS3",
          "parkinsonism-dystonia 3, childhood-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030676"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19719,
      "label": "combined dystonia"
    },
    {
      "id": 20335,
      "label": "parkinsonian disorder"
    }
  ]
}