{
  "id": 9017,
  "label": "Gerstmann-Straussler-Scheinker syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007656",
  "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."
  },
  "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": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7097,
      "label": "prion disease"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}