{
  "id": 7041,
  "label": "Creutzfeldt Jacob disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005357",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    }
  ],
  "children": [
    {
      "id": 8794,
      "label": "inherited Creutzfeldt-Jakob disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7041,
        7073,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017307",
          "MEDGEN:155837",
          "NANDO:1200189",
          "OMIM:123400",
          "Orphanet:282166",
          "SCTID:715807002",
          "UMLS:C0751254",
          "icd11.foundation:607607042"
        ],
        "synonyms": [
          "Creutzfeldt-Jakob disease, variant, resistance to",
          "hereditary Creutzfeldt Jacob disease",
          "inherited CJD",
          "CJD",
          "Creutzfeldt-Jakob disease",
          "Creutzfeldt-Jakob disease, Heidenhain variant",
          "Creutzfeldt-Jakob disease, familial",
          "Creutzfeldt-Jakob disease, sporadic",
          "Creutzfeldt-Jakob disease, variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007403"
    },
    {
      "id": 16708,
      "label": "sporadic Creutzfeldt-Jakob disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7041
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006956",
          "ICD9:046.19",
          "MEDGEN:377682",
          "MedDRA:10011384",
          "NANDO:1200187",
          "Orphanet:204",
          "SCTID:713060000",
          "UMLS:C1852467",
          "icd11.foundation:1553463690"
        ],
        "synonyms": [
          "sporadic CJD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016079"
    },
    {
      "id": 18677,
      "label": "acquired Creutzfeldt-Jakob disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7041
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017788",
          "MEDGEN:1826177",
          "MESH:C538481",
          "NANDO:1200192",
          "Orphanet:454700",
          "UMLS:C5681100"
        ],
        "synonyms": [
          "acquired CJD",
          "acquired Creutzfeldt Jacob disease",
          "sporadic CJD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018686"
    }
  ],
  "roots": [
    {
      "id": 7097,
      "label": "prion disease"
    }
  ]
}