{
  "id": 10156,
  "label": "riboflavin transporter deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008891",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 21302,
      "label": "hereditary motor neuron disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19749,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019478",
          "MEDGEN:78728",
          "Orphanet:98505",
          "SCTID:49793008",
          "UMLS:C0270763"
        ],
        "synonyms": [
          "genetic anterior horn cell disease",
          "genetic motor neuron disease",
          "hereditary motor neuron disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 27,
      "reference_id": "MONDO:0024257"
    }
  ],
  "children": [
    {
      "id": 10155,
      "label": "progressive bulbar palsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4811,
        7209,
        7990,
        10156
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:681",
          "EFO:0003783",
          "GARD:0010928",
          "ICD10CM:G12.22",
          "ICD9:335.22",
          "MEDGEN:18290",
          "MESH:D010244",
          "NCIT:C85026",
          "SCTID:54304004",
          "UMLS:C0030442",
          "icd11.foundation:1143049440"
        ],
        "synonyms": [
          "Fazio-Londe disease",
          "bulbar palsy, progressive, of childhood",
          "progressive bulbar atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008890"
    },
    {
      "id": 14879,
      "label": "Brown-Vialetto-van Laere syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10156
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080786",
          "GARD:0012861",
          "HGNC:30224",
          "MEDGEN:766452",
          "NCIT:C183529",
          "OMIM:614707",
          "Orphanet:572550",
          "UMLS:C3553538"
        ],
        "synonyms": [
          "BVVLS2",
          "Brown-Vialetto-Van Laere syndrome type 2",
          "Brown-Vialetto-van Laere syndrome 2",
          "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2",
          "SLC52A2 Brown-Vialetto-van Laere syndrome"
        ],
        "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 SLC52A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013867"
    },
    {
      "id": 21483,
      "label": "Brown-Vialetto-van Laere syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10156
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024537"
    }
  ],
  "roots": [
    {
      "id": 21302,
      "label": "hereditary motor neuron disease"
    }
  ]
}