{
  "id": 12502,
  "label": "autosomal dominant cerebellar ataxia, deafness and narcolepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011397",
  "properties": {
    "xrefs": [
      "DOID:0050968",
      "GARD:0012372",
      "MEDGEN:928337",
      "OMIM:604121",
      "Orphanet:314404",
      "UMLS:C4302668"
    ],
    "synonyms": [
      "ADCA-DN syndrome",
      "autosomal dominant cerebellar ataxia, deafness and narcolepsy",
      "ADCA-DN",
      "ADCADN",
      "autosomal dominant cerebellar ataxia, deafness, and narcolepsy",
      "autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome",
      "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19535,
      "label": "autosomal dominant cerebellar ataxia type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019252",
          "MEDGEN:1842696",
          "Orphanet:94145",
          "UMLS:C5680259"
        ],
        "synonyms": [
          "ADCA1",
          "ADCAI",
          "autosomal dominant cerebellar ataxia type 1",
          "cerebellar plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019792"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5338,
      "label": "sleep-wake disorder"
    },
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I"
    }
  ]
}