{
  "id": 8794,
  "label": "inherited Creutzfeldt-Jakob disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007403",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "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": 7041,
      "label": "Creutzfeldt Jacob disease"
    },
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}