{
  "id": 23844,
  "label": "myoclonus, familial, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100093",
  "properties": {
    "xrefs": [
      "GARD:0026043",
      "MEDGEN:761667",
      "OMIM:614937",
      "UMLS:C3539916"
    ],
    "synonyms": [
      "myoclonus, familial cortical",
      "FCM",
      "MYOCL1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14991,
      "label": "myoclonus, familial",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017444",
          "OMIMPS:614937",
          "Orphanet:319189",
          "SCTID:763770005"
        ],
        "synonyms": [
          "familial cortical myoclonus",
          "familial myoclonus",
          "myoclonus, familial cortical",
          "FCM"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent."
      },
      "child_count": 4,
      "reference_id": "MONDO:0013981"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14991,
      "label": "myoclonus, familial"
    }
  ]
}