{
  "id": 8571,
  "label": "spastic ataxia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007164",
  "properties": {
    "xrefs": [
      "DOID:0050772",
      "GARD:0017206",
      "MEDGEN:409988",
      "MESH:C566993",
      "OMIM:108600",
      "Orphanet:251282",
      "UMLS:C1970107"
    ],
    "synonyms": [
      "SPAX1",
      "VAMP1 autosomal dominant spastic ataxia",
      "autosomal dominant spastic ataxia caused by mutation in VAMP1",
      "spastic ataxia type 1",
      "autosomal dominant spastic ataxia type 1",
      "spastic ataxia 1, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18063,
      "label": "autosomal dominant spastic ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18062
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021402",
          "MEDGEN:1842682",
          "Orphanet:316235",
          "UMLS:C5679899",
          "icd11.foundation:1327229348"
        ],
        "synonyms": [
          "AD-SPAX",
          "spastic ataxia, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of spastic ataxia."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017846"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18063,
      "label": "autosomal dominant spastic ataxia"
    }
  ]
}