{
  "id": 17694,
  "label": "malignant migrating partial seizures of infancy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017385",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19723,
      "label": "neonatal epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0020070"
    }
  ],
  "children": [
    {
      "id": 14422,
      "label": "developmental and epileptic encephalopathy, 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17694,
        18257,
        24182
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013389"
    },
    {
      "id": 15140,
      "label": "developmental and epileptic encephalopathy, 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17694,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080449",
          "GARD:0015945",
          "MEDGEN:815503",
          "OMIM:615338",
          "UMLS:C3809173"
        ],
        "synonyms": [
          "DEE16",
          "EIEE16",
          "developmental and epileptic encephalopathy 16",
          "epileptic encephalopathy, early infantile, 16",
          "epileptic encephalopathy, early infantile, type 16"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014133"
    },
    {
      "id": 15711,
      "label": "developmental and epileptic encephalopathy, 34",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17694,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080460",
          "GARD:0016147",
          "MEDGEN:899149",
          "OMIM:616645",
          "UMLS:C4225257"
        ],
        "synonyms": [
          "DEE34",
          "EIEE34",
          "SLC12A5 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 34",
          "early infantile epileptic encephalopathy caused by mutation in SLC12A5",
          "epileptic encephalopathy, early infantile, 34",
          "epileptic encephalopathy, early infantile, 34; EIEE34",
          "epileptic encephalopathy, early infantile, type 34"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014718"
    }
  ],
  "roots": [
    {
      "id": 19723,
      "label": "neonatal epilepsy syndrome"
    }
  ]
}