{
  "id": 18850,
  "label": "human prion disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018926",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7208,
      "label": "neurodegenerative disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1289",
          "EFO:0005772",
          "ICD9:349.89",
          "MEDGEN:17999",
          "MESH:D019636",
          "NCIT:C4802",
          "SCTID:80690008",
          "UMLS:C0027746"
        ],
        "synonyms": [
          "degenerative disease",
          "brain degeneration",
          "central nervous system degenerative disorder",
          "central nervous system neurodegenerative disorder",
          "degenerative disorder of central nervous system",
          "cerebral degeneration disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function."
      },
      "child_count": 22,
      "reference_id": "MONDO:0005559"
    },
    {
      "id": 21534,
      "label": "central nervous system infectious disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657,
        19708
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001456",
          "GARD:0025438",
          "ICD9:349.89",
          "MEDGEN:1684837",
          "MESH:D002494",
          "NCIT:C27582",
          "SCTID:128117002",
          "UMLS:C4759823"
        ],
        "synonyms": [
          "central nervous system infectious disease",
          "central nervous system infectious disorder",
          "infectious disease of central nervous system",
          "central nervous system infection",
          "infections, central nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis."
      },
      "child_count": 24,
      "reference_id": "MONDO:0024619"
    }
  ],
  "children": [
    {
      "id": 8270,
      "label": "kuru",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        7097,
        18850
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:648",
          "EFO:1001008",
          "GARD:0007617",
          "ICD10CM:A81.81",
          "ICD9:046.0",
          "MEDGEN:9653",
          "MESH:D007729",
          "MedDRA:10023497",
          "Orphanet:454745",
          "SCTID:86188000",
          "UMLS:C0022802",
          "icd11.foundation:553889510"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0006825"
    },
    {
      "id": 18682,
      "label": "variably protease-sensitive prionopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        18850
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021894",
          "MEDGEN:929196",
          "Orphanet:454742",
          "SCTID:721165001",
          "UMLS:C4303527",
          "icd11.foundation:172957869"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018692"
    },
    {
      "id": 22868,
      "label": "acquired human prion disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18850
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022328",
          "MEDGEN:1842786",
          "Orphanet:576360",
          "UMLS:C5680357"
        ],
        "synonyms": [
          "infectious human prion disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035562"
    },
    {
      "id": 22873,
      "label": "sporadic fatal insomnia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7097,
        18850
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035614"
    }
  ],
  "roots": [
    {
      "id": 7208,
      "label": "neurodegenerative disease"
    },
    {
      "id": 21534,
      "label": "central nervous system infectious disorder"
    }
  ]
}