{
  "id": 22873,
  "label": "sporadic fatal insomnia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0035614",
  "properties": {
    "xrefs": [
      "GARD:0022349",
      "ICD10CM:A81.9",
      "MEDGEN:1799312",
      "Orphanet:586130",
      "UMLS:C5567889"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7097,
      "label": "prion disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        21534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:649",
          "EFO:0004720",
          "GARD:0024183",
          "ICD9:046.19",
          "MEDGEN:56445",
          "MESH:D017096",
          "NANDO:1200186",
          "NCIT:C128346",
          "SCTID:230284004",
          "UMLS:C0162534"
        ],
        "synonyms": [
          "spongiform encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal."
      },
      "child_count": 20,
      "reference_id": "MONDO:0005429"
    },
    {
      "id": 18850,
      "label": "human prion disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        21534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018851",
          "Orphanet:56970"
        ],
        "synonyms": [
          "TSE",
          "transmissible spongiform encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018926"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7097,
      "label": "prion disease"
    },
    {
      "id": 18850,
      "label": "human prion disease"
    }
  ]
}