{
  "id": 14612,
  "label": "hereditary sensory neuropathy-deafness-dementia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013584",
  "properties": {
    "xrefs": [
      "DOID:0070158",
      "GARD:0011927",
      "MEDGEN:481515",
      "MESH:C580162",
      "NORD:1903",
      "OMIM:614116",
      "Orphanet:456318",
      "UMLS:C3279885"
    ],
    "synonyms": [
      "HSAN1E",
      "HSN1E",
      "Hereditary Sensory and Autonomic Neuropathy Type 1E",
      "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome",
      "DNMT1-related dementia, deafness, and sensory neuropathy",
      "HSN 1E",
      "HSNIE",
      "hereditary sensory and autonomic neuropathy type 1E",
      "hereditary sensory neuropathy type 1E",
      "hereditary sensory neuropathy with hearing loss and dementia",
      "neuropathy, hereditary sensory, type 1E",
      "neuropathy, hereditary sensory, type IE",
      "neuropathy, hereditary sensory, with hearing loss and dementia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13."
  },
  "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": 16360,
      "label": "hereditary dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3823,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020028",
          "MEDGEN:1842422",
          "Orphanet:158124",
          "UMLS:C5680680"
        ],
        "synonyms": [
          "genetic dementia"
        ],
        "definition": "An instance of dementia that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 30,
      "reference_id": "MONDO:0015547"
    },
    {
      "id": 18346,
      "label": "hereditary sensory and autonomic neuropathy type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16223,
        18270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070162",
          "GARD:0006635",
          "MEDGEN:5645",
          "NORD:1237",
          "Orphanet:36386",
          "PMID:18348718",
          "SCTID:397734008",
          "UMLS:C0020071",
          "icd11.foundation:1989773046"
        ],
        "synonyms": [
          "HSAN1",
          "Hereditary Sensory Neuropathy Type I",
          "hereditary sensory and autonomic neuropathy type I",
          "HSAN 1",
          "HSN1",
          "hereditary sensory neuropathy type 1",
          "neuropathy hereditary sensory and autonomic type 1",
          "neuropathy hereditary sensory radicular, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018213"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5338,
      "label": "sleep-wake disorder"
    },
    {
      "id": 16360,
      "label": "hereditary dementia"
    },
    {
      "id": 18346,
      "label": "hereditary sensory and autonomic neuropathy type 1"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}