{
  "id": 17521,
  "label": "limbic encephalitis with caspr2 antibodies",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017179",
  "properties": {
    "xrefs": [
      "GARD:0025088",
      "MEDGEN:1634906",
      "Orphanet:276402",
      "SCTID:763793004",
      "UMLS:C4706582"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16388,
      "label": "limbic encephalitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19673
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080741",
          "GARD:0008742",
          "ICD9:323.9",
          "MEDGEN:137895",
          "MESH:D020363",
          "Orphanet:163892",
          "SCTID:230192003",
          "UMLS:C0338430"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015588"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16388,
      "label": "limbic encephalitis"
    }
  ]
}