{
  "id": 18366,
  "label": "intellectual disability-hyperkinetic movement-truncal ataxia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018243",
  "properties": {
    "xrefs": [
      "GARD:0021579",
      "MEDGEN:1683856",
      "Orphanet:369847",
      "UMLS:C5192595"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    }
  ],
  "children": [
    {
      "id": 15151,
      "label": "autosomal recessive limb-girdle muscular dystrophy type R18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        18366
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110287",
          "GARD:0012543",
          "MEDGEN:1385598",
          "OMIM:615356",
          "Orphanet:369840",
          "UMLS:C4517996"
        ],
        "synonyms": [
          "LGMD2S",
          "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11",
          "autosomal recessive limb-girdle muscular dystrophy type 2S",
          "muscular dystrophy, limb-girdle, autosomal recessive 18",
          "muscular dystrophy, limb-girdle, type 2S",
          "limb-girdle muscular dystrophy type 2S"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014144"
    }
  ],
  "roots": [
    {
      "id": 7073,
      "label": "movement disorder"
    }
  ]
}