{
  "id": 22777,
  "label": "spastic ataxia-dysarthria due to glutaminase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0034146",
  "properties": {
    "xrefs": [
      "GARD:0022247",
      "MEDGEN:1814477",
      "Orphanet:557056",
      "UMLS:C5681336"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 24378,
      "label": "glutaminase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026291"
        ],
        "synonyms": [
          "glutaminase deficiency"
        ],
        "definition": "Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0600001"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18064,
      "label": "autosomal recessive spastic ataxia"
    },
    {
      "id": 24378,
      "label": "glutaminase deficiency"
    }
  ]
}