{
  "id": 13704,
  "label": "spastic ataxia 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012664",
  "properties": {
    "xrefs": [
      "DOID:0050942",
      "GARD:0017425",
      "MEDGEN:370715",
      "MESH:C566956",
      "OMIM:611390",
      "Orphanet:314603",
      "UMLS:C1969645"
    ],
    "synonyms": [
      "ARSAL",
      "MARS2 autosomal recessive spastic ataxia",
      "SPAX3",
      "autosomal recessive spastic ataxia caused by mutation in MARS2",
      "autosomal recessive spastic ataxia type 3",
      "spastic ataxia type 3",
      "autosomal recessive spastic ataxia with leukoencephalopathy",
      "spastic ataxia 3, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "id": 18064,
      "label": "autosomal recessive spastic ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18062
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021403",
          "MEDGEN:1826141",
          "Orphanet:316240",
          "UMLS:C5679900"
        ],
        "synonyms": [
          "AR-SPAX",
          "spastic ataxia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of spastic ataxia."
      },
      "child_count": 14,
      "reference_id": "MONDO:0017847"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 18064,
      "label": "autosomal recessive spastic ataxia"
    }
  ]
}