{
  "id": 18526,
  "label": "autoimmune encephalopathy with parasomnia and obstructive sleep apnea",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018489",
  "properties": {
    "xrefs": [
      "GARD:0021749",
      "MEDGEN:1644256",
      "Orphanet:420789",
      "SCTID:765751002",
      "UMLS:C4707562"
    ],
    "synonyms": [
      "anti-IgLON5 disease",
      "anti-IgLON5 syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2996,
      "label": "autoimmune disorder of central nervous system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657,
        4981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060004",
          "EFO:0020092"
        ],
        "synonyms": [
          "central nervous system autoimmune disease",
          "central nervous system hypersensitivity reaction type II disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hypersensitivity reaction type II disease that involves the central nervous system."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000568"
    },
    {
      "id": 5338,
      "label": "sleep-wake disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23833
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:535",
          "ICD10CM:G47",
          "ICD9:307.4",
          "ICD9:307.40",
          "ICD9:307.49",
          "MEDGEN:875755",
          "MESH:D012893",
          "SCTID:39898005",
          "UMLS:C4042891"
        ],
        "synonyms": [
          "disorder of sleep-wake cycle",
          "sleep wake disorder",
          "Subwakefullness syndrome",
          "Subwakefullness syndromes",
          "Tachypneas, sleep-related neurogenic",
          "disorder of sleep-wake schedule",
          "disorder, sleep",
          "disorder, sleep wake",
          "disorders of the sleep-wake schedule",
          "disorders, sleep",
          "disorders, sleep wake",
          "long sleeper syndrome",
          "long sleeper syndromes",
          "neurogenic Tachypneas, sleep-related",
          "neurogenic tachypnea, sleep-related",
          "non-organic sleep disorder",
          "phenotype, short sleep",
          "phenotypes, short sleep",
          "short sleep phenotype",
          "short sleep phenotypes",
          "short sleeper syndrome",
          "short sleeper syndromes",
          "sleep disorder",
          "sleep disorders",
          "sleep phenotypes, short",
          "sleep related neurogenic tachypnea",
          "sleep-related neurogenic Tachypneas",
          "sleep-related neurogenic tachypnea",
          "sleeper syndrome, long",
          "sleeper syndrome, short",
          "sleeper syndromes, long",
          "sleeper syndromes, short",
          "syndrome, Subwakefullness",
          "syndrome, long sleeper",
          "syndrome, short sleeper",
          "syndromes, Subwakefullness",
          "syndromes, long sleeper",
          "syndromes, short sleeper",
          "tachypnea, sleep-related neurogenic",
          "wake disorder, sleep",
          "wake disorders, sleep"
        ],
        "definition": "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. These can include dyssomnias such as circadian rhythm disorders, hypersomnia, and sleep apnea and parasomnias such as bruxism and rapid eye movement sleep disorder."
      },
      "child_count": 12,
      "reference_id": "MONDO:0003406"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2996,
      "label": "autoimmune disorder of central nervous system"
    },
    {
      "id": 5338,
      "label": "sleep-wake disorder"
    },
    {
      "id": 7209,
      "label": "brain disorder"
    }
  ]
}