{
  "id": 10155,
  "label": "progressive bulbar palsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008890",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4811,
      "label": "cranial nerve palsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5469
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3817",
          "EFO:0009489",
          "MEDGEN:57717",
          "NCIT:C26941",
          "UMLS:C0151311"
        ],
        "synonyms": [
          "cranial nerve palsy",
          "cranial nerve paralysis",
          "cranial nerve palsies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness."
      },
      "child_count": 7,
      "reference_id": "MONDO:0002782"
    },
    {
      "id": 7209,
      "label": "brain disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:936",
          "EFO:0005774",
          "ICD9:348.3",
          "ICD9:348.30",
          "ICD9:348.8",
          "ICD9:348.9",
          "MEDGEN:14214",
          "MESH:D001927",
          "NCIT:C96413",
          "SCTID:81308009",
          "UMLS:C0006111"
        ],
        "synonyms": [
          "brain disease",
          "brain disease or disorder",
          "disease of brain",
          "disease or disorder of brain",
          "disorder of brain",
          "encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease affecting the brain or part of the brain."
      },
      "child_count": 71,
      "reference_id": "MONDO:0005560"
    },
    {
      "id": 7990,
      "label": "palsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000631",
          "ICD10CM:G80-G83",
          "MEDGEN:854494",
          "MESH:D010243",
          "UMLS:C3887651",
          "Wikipedia:Palsy"
        ],
        "synonyms": [
          "Plegia",
          "Plegias"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)"
      },
      "child_count": 10,
      "reference_id": "MONDO:0006496"
    },
    {
      "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": [
    {
      "id": 24155,
      "label": "progressive bulbar palsy of childhood",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10155
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080632",
          "GARD:0026209",
          "MEDGEN:140728",
          "OMIM:211500",
          "Orphanet:56965",
          "SCTID:230246005",
          "UMLS:C0393540"
        ],
        "synonyms": [
          "Fazio-Londe disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A progressive bulbar palsy of childhood that occurs during childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100428"
    }
  ],
  "roots": [
    {
      "id": 4811,
      "label": "cranial nerve palsy"
    },
    {
      "id": 7209,
      "label": "brain disorder"
    },
    {
      "id": 7990,
      "label": "palsy"
    },
    {
      "id": 10156,
      "label": "riboflavin transporter deficiency"
    }
  ]
}