{
  "id": 24301,
  "label": "myoclonic epilepsy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100577",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 16436,
      "label": "epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020083",
          "MEDGEN:1371141",
          "Orphanet:166463",
          "UMLS:C4505072"
        ],
        "synonyms": [
          "epileptic syndrome",
          "syndromic epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndrome that has a characteristic cluster of clinical features and/or lectroencephalographic (EEG) findings that reflect underlying epileptic activity. It is often associated with a range of other health issues, including cognitive impairment, intellectual disability, physical gross motor and fine motor delays, speech and language deficits, and impacts to other bodily functions and may be supported by specific etiological findings—such as structural, genetic, metabolic, immune, or infectious causes or have an unknown etiology."
      },
      "child_count": 8,
      "reference_id": "MONDO:0015650"
    }
  ],
  "children": [
    {
      "id": 2751,
      "label": "epilepsy, familial adult myoclonic",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24301
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000160"
    },
    {
      "id": 9365,
      "label": "myoclonic epilepsy, Hartung type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024596",
          "MEDGEN:371857",
          "MESH:C563550",
          "OMIM:159600",
          "UMLS:C1834581"
        ],
        "synonyms": [
          "myoclonic epilepsy, Hartung type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008041"
    },
    {
      "id": 10910,
      "label": "juvenile myoclonic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24301,
        25071
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4890",
          "GARD:0006808",
          "ICD10CM:G40.B",
          "ICD9:345.10",
          "MEDGEN:78738",
          "MESH:D020190",
          "MedDRA:10071082",
          "NCIT:C84796",
          "OMIM:254770",
          "OMIM:606904",
          "OMIMPS:254770",
          "Orphanet:307",
          "SCTID:6204001",
          "UMLS:C0270853",
          "icd11.foundation:1014397110"
        ],
        "synonyms": [
          "EJM",
          "JME",
          "epilepsy, myoclonic juvenile",
          "juvenile myoclonus epilepsy",
          "myoclonic epilepsy, juvenile",
          "myoclonic epilepsy, juvenile, 1",
          "myoclonic epilepsy, juvenile, susceptibility to, 1",
          "petit mal, impulsive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009696"
    },
    {
      "id": 12606,
      "label": "familial infantile myoclonic epilepsy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16437,
        24270,
        24301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017521",
          "MEDGEN:181488",
          "OMIM:605021",
          "Orphanet:352582",
          "UMLS:C0917800"
        ],
        "synonyms": [
          "FIME",
          "familial infantile myoclonus epilepsy",
          "myoclonic epilepsy, infantile, familial",
          "Eim",
          "myoclonic epilepsy, familial infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011506"
    },
    {
      "id": 19309,
      "label": "myoclonic epilepsy in non-progressive encephalopathies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019088",
          "MEDGEN:1661865",
          "Orphanet:86913",
          "UMLS:C4755298"
        ],
        "synonyms": [
          "myoclonic status in non-progressive encephalopathies",
          "myoclonus epilepsy in non-progressive encephalopathies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019488"
    },
    {
      "id": 19726,
      "label": "progressive myoclonus epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24301,
        25079
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:891",
          "GARD:0007140",
          "MEDGEN:199732",
          "MESH:D020191",
          "NANDO:1200953",
          "NANDO:2100237",
          "NCIT:C7636",
          "NORD:1617",
          "OMIMPS:254800",
          "Orphanet:98261",
          "SCTID:267581004",
          "UMLS:C0751778",
          "icd11.foundation:173613583"
        ],
        "synonyms": [
          "PME",
          "epilepsy, progressive myoclonic",
          "progressive myoclonic epilepsy",
          "progressive myoclonic epilepsy (disorder) [ambiguous]",
          "progressive myoclonus epilepsy",
          "familial progressive myoclonic epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system."
      },
      "child_count": 45,
      "reference_id": "MONDO:0020074"
    },
    {
      "id": 24291,
      "label": "myoclonic epilepsy in infancy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19724,
        24301,
        25072
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019086",
          "MEDGEN:148242",
          "Orphanet:86909",
          "UMLS:C0751120"
        ],
        "synonyms": [
          "MEI",
          "benign myoclonic epilepsy of infancy",
          "benign myoclonus epilepsy of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neonatal/infantile epilepsy syndrome that is characterized by the onset of myoclonic seizures between the ages of 6-18 months (range 4 months to 3 years). Males are twice as likely to be affected as females. Antecedent and birth history is unremarkable. Head size and neurological examination are normal. Prior development is usually normal. Cognitive, motor and behavioral difficulties are reported, especially if seizures are poorly controlled. Developmental outcome is normal in 60-85% of cases. Mild intellectual impairment and attention problems can be seen."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100566"
    }
  ],
  "roots": [
    {
      "id": 16436,
      "label": "epilepsy syndrome"
    }
  ]
}