{
  "id": 18429,
  "label": "PrP systemic amyloidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018339",
  "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."
  },
  "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"
    }
  ]
}