{
  "id": 14991,
  "label": "myoclonus, familial",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013981",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 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": [
    {
      "id": 23843,
      "label": "myoclonus, familial, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14991
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026042",
          "MEDGEN:1683864",
          "OMIM:618364",
          "UMLS:C5193056"
        ],
        "synonyms": [
          "MYOCL2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100092"
    },
    {
      "id": 23844,
      "label": "myoclonus, familial, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14991
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100093"
    }
  ],
  "roots": [
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}