{
  "id": 19723,
  "label": "neonatal epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020070",
  "properties": {
    "xrefs": [
      "GARD:0019435",
      "Orphanet:98257"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An epilepsy syndrome that has an onset during the neonatal stage of life."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "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": 11558,
      "label": "severe neonatal-onset encephalopathy with microcephaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16437,
        19723,
        23939,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111932",
          "GARD:0017103",
          "MEDGEN:409616",
          "MESH:C566878",
          "NCIT:C132293",
          "OMIM:300673",
          "Orphanet:209370",
          "UMLS:C1968556",
          "icd11.foundation:240602582"
        ],
        "synonyms": [
          "encephalopathy, neonatal severe, X-linked recessive",
          "severe congenital encephalopathy due to MECP2 mutation",
          "severe neonatal encephalopathy due to MECP2 mutations",
          "encephalopathy, neonatal severe, due to MECP2 mutations"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010397"
    },
    {
      "id": 14094,
      "label": "developmental and epileptic encephalopathy, 39",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17234,
        19723,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080349",
          "GARD:0017532",
          "MEDGEN:414492",
          "MESH:C567847",
          "OMIM:612949",
          "Orphanet:353217",
          "SCTID:726702005",
          "UMLS:C2751855"
        ],
        "synonyms": [
          "AGC1 deficiency",
          "DEE39",
          "EIEE39",
          "SLC25A12 early infantile epileptic encephalopathy",
          "early infantile epileptic encephalopathy caused by mutation in SLC25A12",
          "epileptic encephalopathy with global cerebral demyelination",
          "epileptic encephalopathy, early infantile, 39",
          "mitochondrial aspartate-glutamate carrier 1 deficiency",
          "aspartate-glutamate carrier 1 deficiency",
          "hypomyelination, global cerebral"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013056"
    },
    {
      "id": 16665,
      "label": "benign neonatal seizures",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19723,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14264",
          "DOID:14777",
          "GARD:0001519",
          "MEDGEN:65082",
          "MedDRA:10067866",
          "NCIT:C117307",
          "OMIMPS:121200",
          "Orphanet:1949",
          "SCTID:279953009",
          "SCTID:38281008",
          "UMLS:C0220669"
        ],
        "synonyms": [
          "BFNS",
          "benign familal neonatal seizures",
          "benign familial convulsion",
          "benign familial convulsions",
          "benign familial neonatal convulsions",
          "benign familial neonatal epilepsy",
          "benign familial neonatal seizures",
          "seizures, benign familial neonatal"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016027"
    },
    {
      "id": 17694,
      "label": "malignant migrating partial seizures of infancy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19723
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012919",
          "NANDO:1200595",
          "NCIT:C125387",
          "Orphanet:293181"
        ],
        "synonyms": [
          "MPSI",
          "MMPEI",
          "MMPSI",
          "MPEI",
          "malignant migrating Partial seizures in infancy",
          "malignant migrating partial epilepsy of infancy",
          "migrating Partial seizures in infancy",
          "migrating partial epilepsy of infancy",
          "migrating partial seizures of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017385"
    },
    {
      "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": 18900,
      "label": "benign idiopathic neonatal seizures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19723,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018860",
          "MEDGEN:140738",
          "Orphanet:64545",
          "UMLS:C0393693",
          "icd11.foundation:1131336245"
        ],
        "synonyms": [
          "BINS",
          "benign nonfamilial neonatal seizures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018981"
    }
  ],
  "roots": [
    {
      "id": 16436,
      "label": "epilepsy syndrome"
    }
  ]
}