{
  "id": 19724,
  "label": "infantile epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020071",
  "properties": {
    "xrefs": [
      "GARD:0019436",
      "Orphanet:98258"
    ],
    "synonyms": [
      "epilepsy syndrome of infancy",
      "infantile epilepsy syndrome",
      "infantile onset epilepsy syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An epilepsy syndrome that occurs between 28 days to one year of life."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "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": 14000,
      "label": "intellectual disability, autosomal dominant 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19724,
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070035",
          "GARD:0012558",
          "MEDGEN:382611",
          "MESH:C567234",
          "OMIM:612621",
          "Orphanet:544254",
          "UMLS:C2675473"
        ],
        "synonyms": [
          "MRD5",
          "SYNGAP1 autosomal dominant non-syndromic intellectual disability",
          "SYNGAP1-related developmental and epileptic encephalopathy",
          "autosomal dominant intellectual disability 5",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1",
          "epilepsy due to SYNGAP mutations",
          "intellectual disability, autosomal dominant 5",
          "intellectual disability, autosomal dominant type 5",
          "mental retardation, autosomal dominant type 5",
          "SYNGAP1 gene mutation linked to intellectual disability, schizophrenia and autism",
          "SYNGAP1 syndrome",
          "SYNGAP1-related NSID",
          "SYNGAP1-related non-syndromic intellectual disability",
          "autosomal dominant non-syndromic intellectual disability 5",
          "mental retardation, autosomal dominant 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012960"
    },
    {
      "id": 16428,
      "label": "benign partial infantile seizures",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020076",
          "MEDGEN:1842641",
          "Orphanet:166311",
          "UMLS:C5680426"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0015642"
    },
    {
      "id": 16664,
      "label": "infant epilepsy with migrant focal crisis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002995",
          "MEDGEN:1390817",
          "Orphanet:1943",
          "SCTID:724274009",
          "UMLS:C4510564"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016026"
    },
    {
      "id": 18068,
      "label": "infantile spasms-broad thumbs syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003002",
          "MEDGEN:1667345",
          "Orphanet:3173",
          "UMLS:C4749287"
        ],
        "synonyms": [
          "Tsao-Ellingson syndrome",
          "Tsao Ellingson syndrome",
          "infantile spasms broad thumbs"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017852"
    },
    {
      "id": 18276,
      "label": "progressive myoclonic epilepsy with dystonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017522",
          "MEDGEN:1642042",
          "Orphanet:352596",
          "SCTID:763349002",
          "UMLS:C4706413"
        ],
        "synonyms": [
          "PMED",
          "progressive myoclonus epilepsy with dystonia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018126"
    },
    {
      "id": 18410,
      "label": "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16437,
        19724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021619",
          "MEDGEN:1654958",
          "Orphanet:391316",
          "UMLS:C4750853"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018314"
    },
    {
      "id": 18615,
      "label": "undetermined early-onset epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19084,
        19723,
        19724,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015028",
          "MEDGEN:1826068",
          "Orphanet:442835",
          "UMLS:C5680057"
        ],
        "synonyms": [
          "non-specific early-onset epileptic encephalopathy",
          "undetermined EOEE",
          "undetermined early-onset epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities."
      },
      "child_count": 64,
      "reference_id": "MONDO:0018614"
    },
    {
      "id": 19307,
      "label": "idiopathic hemiconvulsion-hemiplegia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19724,
        24405,
        25084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019085",
          "MEDGEN:639806",
          "NANDO:1200596",
          "Orphanet:86908",
          "SCTID:230407006",
          "UMLS:C0549118"
        ],
        "synonyms": [
          "HHE syndrome",
          "IHHS",
          "hemiconvulsion-hemiplegia-epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019485"
    },
    {
      "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"
    }
  ]
}