{
  "id": 12922,
  "label": "biotin-responsive basal ganglia disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011841",
  "properties": {
    "xrefs": [
      "DOID:0050659",
      "GARD:0010237",
      "ICD9:333.99",
      "MEDGEN:375289",
      "MESH:C537658",
      "OMIM:607483",
      "Orphanet:199348",
      "Orphanet:65284",
      "SCTID:703522009",
      "SCTID:723557004",
      "UMLS:C1843807",
      "icd11.foundation:1776831202"
    ],
    "synonyms": [
      "BBGD",
      "BTBGD",
      "THMD2",
      "biotin-responsive basal ganglia disease",
      "biotin-thiamine-responsive basal ganglia disease",
      "encephalopathy, thiamine-responsive",
      "thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)",
      "thiamine-responsive encephalopathy",
      "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2745,
      "label": "thiamine-responsive dysfunction syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17859
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022716",
          "OMIMPS:249270"
        ],
        "synonyms": [
          "thiamine-responsive dysfunction syndrome"
        ],
        "definition": "A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance."
      },
      "child_count": 5,
      "reference_id": "MONDO:0000152"
    },
    {
      "id": 5849,
      "label": "basal ganglia disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "CSP:2057-3403",
          "DOID:679",
          "EFO:0009533",
          "ICD9:333.0",
          "MEDGEN:1619147",
          "MESH:D001480",
          "SCTID:70835005",
          "UMLS:C4520981"
        ],
        "synonyms": [
          "basal ganglia disease",
          "collection of basal ganglia disease",
          "collection of basal ganglia disease or disorder",
          "disease of basal ganglia",
          "disease of collection of basal ganglia",
          "disease or disorder of collection of basal ganglia",
          "disorder of collection of basal ganglia",
          "disorder of basal ganglia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease involving the basal ganglia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0003996"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2745,
      "label": "thiamine-responsive dysfunction syndrome"
    },
    {
      "id": 5849,
      "label": "basal ganglia disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}