{
  "id": 14387,
  "label": "spastic ataxia 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013354",
  "properties": {
    "xrefs": [
      "DOID:0050943",
      "GARD:0010992",
      "MEDGEN:462275",
      "OMIM:613672",
      "Orphanet:254343",
      "UMLS:C3150925"
    ],
    "synonyms": [
      "MTPAP autosomal recessive spastic ataxia",
      "SPAX4",
      "autosomal recessive spastic ataxia caused by mutation in MTPAP",
      "autosomal recessive spastic ataxia type 4",
      "spastic ataxia type 4",
      "autosomal recessive spastic ataxia - optic atrophy - dysarthria",
      "autosomal recessive spastic ataxia 4",
      "autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome",
      "spastic ataxia 4, 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 MTPAP 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"
    }
  ]
}