{
  "id": 7097,
  "label": "prion disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005429",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "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"
    },
    {
      "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": 7041,
      "label": "Creutzfeldt Jacob disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7097
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11949",
          "EFO:0004226",
          "GARD:0024173",
          "ICD9:046.1",
          "ICD9:046.19",
          "MEDGEN:7179",
          "MESH:D007562",
          "NCIT:C26802",
          "NORD:1014",
          "SCTID:792004",
          "UMLS:C0022336"
        ],
        "synonyms": [
          "CJD",
          "CJD (Creutzfeldt Jakob disease)",
          "Creutzfeldt Jakob Disease",
          "Creutzfeldt-Jacob disease",
          "Jakob-Creutzfeldt disease",
          "classic Creutzfeldt-Jakob disease",
          "Creutzfeldt-Jakob disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease."
      },
      "child_count": 3,
      "reference_id": "MONDO:0005357"
    },
    {
      "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": 8387,
      "label": "scrapie",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7097
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5434",
          "EFO:1001168",
          "GARD:0024508",
          "MEDGEN:19903",
          "MESH:D012608",
          "UMLS:C0036457"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006961"
    },
    {
      "id": 9017,
      "label": "Gerstmann-Straussler-Scheinker syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7097,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4249",
          "GARD:0007690",
          "ICD10CM:A81.82",
          "ICD9:046.71",
          "MEDGEN:4886",
          "MESH:C535800",
          "MedDRA:10072075",
          "NANDO:1200190",
          "NCIT:C84727",
          "OMIM:137440",
          "Orphanet:356",
          "SCTID:67155006",
          "UMLS:C0017495",
          "icd11.foundation:406818835"
        ],
        "synonyms": [
          "Gerstmann-Straussler-Scheinker disease",
          "prion dementia",
          "subacute spongiform encephalopathy, Gerstmann-Straussler type",
          "GSD",
          "Gerstmann Straussler Scheinker syndrome",
          "Gerstmann-Straussler disease",
          "amyloidosis cerebral with spongiform encephalopathy",
          "amyloidosis, cerebral, with spongiform encephalopathy",
          "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS",
          "cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system",
          "cerebral amyloid angiopathy, Prnp-related",
          "encephalopathy subacute spongiform Gerstmann-Straussler type",
          "encephalopathy, Subacute spongiform, Gerstmann-Straussler type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007656"
    },
    {
      "id": 11944,
      "label": "fatal familial insomnia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7097,
        14626,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050433",
          "GARD:0006429",
          "ICD10CM:A81.83",
          "ICD9:046.72",
          "MEDGEN:104768",
          "MESH:D034062",
          "MedDRA:10072077",
          "NANDO:1200191",
          "NCIT:C84711",
          "NORD:1920",
          "OMIM:600072",
          "Orphanet:466",
          "SCTID:83157008",
          "UMLS:C0206042",
          "icd11.foundation:669154658"
        ],
        "synonyms": [
          "fatal familial insomnia",
          "FFI",
          "Insomnia familial fatal",
          "Insomnia, fatal familial",
          "familial fatal insomnia",
          "fatal familial INSOMNIA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010808"
    },
    {
      "id": 12415,
      "label": "Huntington disease-like 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7097,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090103",
          "GARD:0016985",
          "MEDGEN:355137",
          "MESH:C566398",
          "OMIM:603218",
          "Orphanet:157941",
          "UMLS:C1864112"
        ],
        "synonyms": [
          "HDL1",
          "HLN1",
          "Huntington disease-like 1",
          "Huntington disease-like type 1",
          "Huntington-like neurodegenerative disorder 1",
          "PRNP neurodegenerative disease with chorea",
          "early-onset prion disease with prominent psychiatric features",
          "neurodegenerative disease with chorea caused by mutation in PRNP",
          "Huntington's disease-like 1",
          "Huntington-like neurodegenerative disorder, autosomal dominant",
          "prion disease, early-onset, with prominent psychiatric features"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011299"
    },
    {
      "id": 12792,
      "label": "spongiform encephalopathy with neuropsychiatric features",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7097,
        23939,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024819",
          "MEDGEN:339812",
          "MESH:C564678",
          "OMIM:606688",
          "UMLS:C1847650"
        ],
        "synonyms": [
          "spongiform encephalopathy with neuropsychiatric features"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011703"
    },
    {
      "id": 17572,
      "label": "familial Alzheimer-like prion disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7097,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021084",
          "MEDGEN:929151",
          "Orphanet:280397",
          "SCTID:721219005",
          "UMLS:C4303482",
          "icd11.foundation:1297025427"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017233"
    },
    {
      "id": 18429,
      "label": "PrP systemic amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7097,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021632",
          "MEDGEN:1377371",
          "Orphanet:397606",
          "SCTID:733422008",
          "UMLS:C4518776"
        ],
        "synonyms": [
          "chronic diarrhea with HSAN",
          "chronic diarrhea with hereditary sensory and autonomic neuropathy",
          "chronic diarrhoea with HSAN",
          "chronic diarrhoea with hereditary sensory and autonomic neuropathy",
          "prion protein systemic amyloidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018339"
    },
    {
      "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": 7209,
      "label": "brain disorder"
    },
    {
      "id": 21534,
      "label": "central nervous system infectious disorder"
    }
  ]
}