{
  "id": 14422,
  "label": "developmental and epileptic encephalopathy, 12",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013389",
  "properties": {
    "xrefs": [
      "DOID:0080459",
      "GARD:0013318",
      "MEDGEN:462338",
      "OMIM:613722",
      "UMLS:C3150988"
    ],
    "synonyms": [
      "DEE12",
      "EIEE12",
      "PLCB1 early infantile epileptic encephalopathy",
      "developmental and epileptic encephalopathy 12",
      "developmental and epileptic encephalopathy, 12",
      "early infantile epileptic encephalopathy 12",
      "early infantile epileptic encephalopathy caused by mutation in PLCB1",
      "epileptic encephalopathy, early infantile, 12",
      "epileptic encephalopathy, early infantile, type 12"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18257,
      "label": "infantile spasms",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        25074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050562",
          "GARD:0007887",
          "ICD9:345.60",
          "ICD9:348.89",
          "MEDGEN:11519",
          "MedDRA:10021750",
          "NANDO:1200592",
          "NANDO:2200878",
          "NCIT:C84788",
          "NORD:1848",
          "Orphanet:3451",
          "Orphanet:697160",
          "SCTID:28055006",
          "UMLS:C0037769",
          "icd11.foundation:1023597213"
        ],
        "synonyms": [
          "IESS",
          "West syndrome",
          "West's syndrome",
          "infantile epileptic spasms syndrome",
          "infantile spasms",
          "infantile spasms syndrome",
          "intellectual disability-hypsarrhythmia syndrome",
          "X-linked infantile spasm syndrome",
          "X-linked infantile spasms",
          "tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome."
      },
      "child_count": 16,
      "reference_id": "MONDO:0018097"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026229"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur."
      },
      "child_count": 20,
      "reference_id": "MONDO:0100455"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17694,
      "label": "malignant migrating partial seizures of infancy"
    },
    {
      "id": 18257,
      "label": "infantile spasms"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy"
    }
  ]
}