{
  "id": 21483,
  "label": "Brown-Vialetto-van Laere syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024537",
  "properties": {
    "xrefs": [
      "DOID:0080785",
      "GARD:0018010",
      "MEDGEN:163239",
      "NCIT:C133724",
      "OMIM:211530",
      "Orphanet:572543",
      "UMLS:C0796274"
    ],
    "synonyms": [
      "Brown-Vialetto-Van Laere syndrome 1",
      "Brown-Vialetto-van Laere syndrome 1",
      "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3",
      "RTD2",
      "Riboflavin transporter deficiency 2",
      "SLC52A3 Brown-Vialetto-van Laere syndrome",
      "rfvt2-related riboflavin transporter deficiency",
      "BVVLS1",
      "bulbar palsy, progressive, with sensorineural deafness",
      "pontobulbar palsy with deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10156,
      "label": "riboflavin transporter deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050694",
          "GARD:0009993",
          "MEDGEN:1634394",
          "MESH:C537111",
          "NORD:1960",
          "OMIMPS:211530",
          "Orphanet:97229",
          "SCTID:699866005",
          "UMLS:C4551777"
        ],
        "synonyms": [
          "Brown-Vialetto-van Laere syndrome",
          "Fazio-Londe syndrome",
          "disorder of riboflavin transmembrane transporter activity",
          "riboflavin transmembrane transporter activity disease",
          "sensorineural hearing loss-pontobulbar palsy syndrome",
          "Brown-Vialetto-Van Laere syndrome 1",
          "BVVLS",
          "BVVLS1",
          "pontobulbar palsy and neurosensory deafness",
          "progressive bulbar palsy with sensorineural deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008891"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10156,
      "label": "riboflavin transporter deficiency"
    }
  ]
}