{
  "id": 2751,
  "label": "epilepsy, familial adult myoclonic",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000160",
  "properties": {
    "xrefs": [
      "DOID:0111689",
      "GARD:0022720",
      "OMIMPS:601068"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An epilepsy syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "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"
    },
    {
      "id": 24301,
      "label": "myoclonic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027276",
          "MEDGEN:4988",
          "UMLS:C0014550"
        ],
        "synonyms": [
          "myoclonic epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of epilepsy syndromes in which myoclonic seizures are a prominent feature."
      },
      "child_count": 7,
      "reference_id": "MONDO:0100577"
    }
  ],
  "children": [
    {
      "id": 12113,
      "label": "epilepsy, familial adult myoclonic, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111690",
          "GARD:0018082",
          "MEDGEN:371424",
          "MESH:C563399",
          "OMIM:601068",
          "UMLS:C1832841"
        ],
        "synonyms": [
          "FAME1",
          "benign adult familial myoclonic epilepsy 1",
          "cortical myoclonic tremor with epilepsy, familial, 1",
          "epilepsy, familial ADULT myoclonic, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010985"
    },
    {
      "id": 13004,
      "label": "epilepsy, familial adult myoclonic, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111692",
          "GARD:0018083",
          "MEDGEN:375031",
          "MESH:C564313",
          "OMIM:607876",
          "UMLS:C1842852"
        ],
        "synonyms": [
          "ADRA2B epilepsy, familial adult myoclonic",
          "epilepsy, familial adult myoclonic caused by mutation in ADRA2B",
          "epilepsy, familial adult myoclonic, 2",
          "epilepsy, familial adult myoclonic, type 2",
          "FAME2",
          "benign adult familial myoclonic epilepsy 2",
          "cortical myoclonic tremor with epilepsy, familial, 2",
          "cortical myoclonus and epilepsy, autosomal dominant",
          "epilepsy, familial ADULT myoclonic, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011930"
    },
    {
      "id": 14357,
      "label": "epilepsy, familial adult myoclonic, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111695",
          "GARD:0018084",
          "MEDGEN:462210",
          "MESH:C567098",
          "OMIM:613608",
          "UMLS:C3150860"
        ],
        "synonyms": [
          "FAME3",
          "cortical myoclonic tremor with epilepsy, familial, 3",
          "epilepsy, familial ADULT myoclonic, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013322"
    },
    {
      "id": 15064,
      "label": "epilepsy, familial adult myoclonic, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111693",
          "GARD:0018085",
          "MEDGEN:767474",
          "OMIM:615127",
          "UMLS:C3554560"
        ],
        "synonyms": [
          "FAME4",
          "epilepsy, myoclonic, familial adult, 4",
          "cortical myoclonic tremor with epilepsy, familial, 4",
          "epilepsy, familial ADULT myoclonic, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014055"
    },
    {
      "id": 15174,
      "label": "epilepsy, familial adult myoclonic, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111691",
          "GARD:0018086",
          "MEDGEN:815704",
          "OMIM:615400",
          "UMLS:C3809374"
        ],
        "synonyms": [
          "CNTN2 epilepsy, familial adult myoclonic",
          "epilepsy, familial adult myoclonic caused by mutation in CNTN2",
          "epilepsy, familial adult myoclonic, 5",
          "epilepsy, familial adult myoclonic, type 5",
          "epilepsy, myoclonic, familial adult, 5",
          "FAME5",
          "cortical myoclonic tremor with epilepsy, familial, 5",
          "epilepsy, familial ADULT myoclonic, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014167"
    },
    {
      "id": 19274,
      "label": "benign adult familial myoclonic epilepsy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016758",
          "MEDGEN:908684",
          "NANDO:1200956",
          "Orphanet:86814",
          "SCTID:717225001",
          "UMLS:C4273988",
          "icd11.foundation:1036649329"
        ],
        "synonyms": [
          "ADCME",
          "BAFME",
          "FAME",
          "FCMTE",
          "autosomal dominant cortical myoclonus and epilepsy",
          "benign adult familial myoclonus epilepsy",
          "familial adult myoclonic epilepsy",
          "familial cortical myoclonic tremor and epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019448"
    },
    {
      "id": 23645,
      "label": "epilepsy, familial adult myoclonic, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111696",
          "GARD:0025986",
          "MEDGEN:1648448",
          "OMIM:618074",
          "UMLS:C4748079"
        ],
        "synonyms": [
          "FAME6",
          "benign Adult Familial myoclonic epilepsy 6",
          "cortical myoclonic tremor with epilepsy, Familial, 6",
          "epilepsy, FAMILIAL ADULT myoclonic, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054846"
    },
    {
      "id": 23646,
      "label": "epilepsy, familial adult myoclonic, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111694",
          "GARD:0025987",
          "MEDGEN:1648435",
          "OMIM:618075",
          "UMLS:C4748080"
        ],
        "synonyms": [
          "FAME7",
          "benign Adult Familial myoclonic epilepsy 7",
          "cortical myoclonic tremor with epilepsy, Familial, 7",
          "epilepsy, FAMILIAL ADULT myoclonic, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054847"
    }
  ],
  "roots": [
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 24301,
      "label": "myoclonic epilepsy"
    }
  ]
}