{
  "id": 24182,
  "label": "neonatal-onset developmental and epileptic encephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100455",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 20,
  "parents": [
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226,
        24340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112202",
          "GARD:0009255",
          "ICD9:345.10",
          "NANDO:1200593",
          "NCIT:C122814",
          "OMIMPS:308350"
        ],
        "synonyms": [
          "developmental and epileptic encephalopathy",
          "hereditary developmental and epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity."
      },
      "child_count": 210,
      "reference_id": "MONDO:0100062"
    }
  ],
  "children": [
    {
      "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": 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": 14818,
      "label": "developmental and epileptic encephalopathy, 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080445",
          "GARD:0013085",
          "MEDGEN:482821",
          "OMIM:614558",
          "SCTID:765170001",
          "UMLS:C3281191"
        ],
        "synonyms": [
          "DEE13",
          "EIEE13",
          "SCN8A early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 13",
          "early infantile epileptic encephalopathy caused by mutation in SCN8A",
          "early infantile epileptic encephalopathy-13",
          "epileptic encephalopathy, early infantile, 13",
          "epileptic encephalopathy, early infantile, type 13",
          "SCN8A encephalopathy",
          "SCN8A epilepsy"
        ],
        "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 SCN8A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013801"
    },
    {
      "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": 15362,
      "label": "developmental and epileptic encephalopathy, 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080443",
          "GARD:0016017",
          "MEDGEN:862867",
          "OMIM:615833",
          "UMLS:C4014430"
        ],
        "synonyms": [
          "DEE21",
          "EIEE21",
          "NECAP1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 21",
          "early infantile epileptic encephalopathy caused by mutation in NECAP1",
          "epileptic encephalopathy, early infantile, 21",
          "epileptic encephalopathy, early infantile, type 21"
        ],
        "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 NECAP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014360"
    },
    {
      "id": 15379,
      "label": "developmental and epileptic encephalopathy, 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080429",
          "GARD:0016024",
          "MEDGEN:862968",
          "OMIM:615871",
          "UMLS:C4014531"
        ],
        "synonyms": [
          "DEE24",
          "EIEE24",
          "HCN1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 24",
          "early infantile epileptic encephalopathy caused by mutation in HCN1",
          "epileptic encephalopathy, early infantile, 24",
          "epileptic encephalopathy, early infantile, type 24"
        ],
        "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 HCN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014377"
    },
    {
      "id": 15394,
      "label": "developmental and epileptic encephalopathy, 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080453",
          "GARD:0012901",
          "MEDGEN:863058",
          "NORD:1914",
          "OMIM:615905",
          "UMLS:C4014621"
        ],
        "synonyms": [
          "DEE25",
          "EIEE25",
          "SLC13A5 Citrate Transporter Disorder",
          "SLC13A5 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy, 25",
          "early infantile epileptic encephalopathy 25",
          "early infantile epileptic encephalopathy caused by mutation in SLC13A5",
          "epileptic encephalopathy, early infantile, 25",
          "epileptic encephalopathy, early infantile, type 25",
          "SLC13A5 deficiency"
        ],
        "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 SLC13A5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014392"
    },
    {
      "id": 15476,
      "label": "developmental and epileptic encephalopathy, 26",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080461",
          "GARD:0012391",
          "MEDGEN:863556",
          "OMIM:616056",
          "UMLS:C4015119"
        ],
        "synonyms": [
          "DEE26",
          "EIEE26",
          "KCNB1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 26",
          "early infantile epileptic encephalopathy 26",
          "early infantile epileptic encephalopathy caused by mutation in KCNB1",
          "epileptic encephalopathy, early infantile, 26",
          "epileptic encephalopathy, early infantile, type 26"
        ],
        "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 KCNB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014477"
    },
    {
      "id": 15532,
      "label": "developmental and epileptic encephalopathy, 28",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080452",
          "GARD:0016069",
          "MEDGEN:863956",
          "OMIM:616211",
          "UMLS:C4015519"
        ],
        "synonyms": [
          "DEE28",
          "EIEE28",
          "WOREE syndrome",
          "WWOX early infantile epileptic encephalopathy",
          "WWOX-related epileptic encephalopathy",
          "developmental and epileptic encephalopathy 28",
          "early infantile epileptic encephalopathy caused by mutation in WWOX",
          "epileptic encephalopathy, early infantile, 28",
          "epileptic encephalopathy, early infantile, type 28"
        ],
        "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 WWOX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014533"
    },
    {
      "id": 15591,
      "label": "developmental and epileptic encephalopathy, 29",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182,
        26554
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080451",
          "GARD:0016092",
          "MEDGEN:908570",
          "OMIM:616339",
          "UMLS:C4225361"
        ],
        "synonyms": [
          "AARS early infantile epileptic encephalopathy",
          "DEE29",
          "EIEE29",
          "developmental and epileptic encephalopathy 29",
          "early infantile epileptic encephalopathy caused by mutation in AARS",
          "epileptic encephalopathy, early infantile, 29",
          "epileptic encephalopathy, early infantile, type 29"
        ],
        "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 AARS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014593"
    },
    {
      "id": 15596,
      "label": "developmental and epileptic encephalopathy, 31A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17029,
        18615,
        24182,
        24713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080437",
          "GARD:0016094",
          "MEDGEN:894942",
          "OMIM:616346",
          "UMLS:C4225357"
        ],
        "synonyms": [
          "DEE31",
          "DNM1-encephalopathy and neurodevelopmental disorder",
          "DNM1-related epilepsy and neurodevelopmental disorder",
          "EIEE31",
          "developmental and epileptic encephalopathy 31",
          "early infantile epileptic encephalopathy caused by mutation in DNM1",
          "epileptic encephalopathy, early infantile, 31",
          "epileptic encephalopathy, early infantile, type 31",
          "DEE31A",
          "DNM1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 31A, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014598"
    },
    {
      "id": 15605,
      "label": "developmental and epileptic encephalopathy, 32",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080416",
          "GARD:0016096",
          "MEDGEN:909501",
          "OMIM:616366",
          "UMLS:C4225350"
        ],
        "synonyms": [
          "DEE32",
          "EIEE32",
          "KCNA2 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 32",
          "early infantile epileptic encephalopathy caused by mutation in KCNA2",
          "epileptic encephalopathy, early infantile, 32",
          "epileptic encephalopathy, early infantile, type 32"
        ],
        "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 KCNA2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014607"
    },
    {
      "id": 15621,
      "label": "developmental and epileptic encephalopathy, 33",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080463",
          "GARD:0016106",
          "MEDGEN:897930",
          "NORD:111336",
          "OMIM:616409",
          "UMLS:C4225337"
        ],
        "synonyms": [
          "DEE33",
          "EEF1A2 early infantile epileptic encephalopathy",
          "EEF1A2-Related Neurodevelopmental Disorder",
          "EEF1A2-related neurodevelopmental disorder",
          "EIEE33",
          "developmental and epileptic encephalopathy 33",
          "early infantile epileptic encephalopathy caused by mutation in EEF1A2",
          "epileptic encephalopathy, early infantile, 33",
          "epileptic encephalopathy, early infantile, type 33"
        ],
        "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 EEF1A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014625"
    },
    {
      "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"
    },
    {
      "id": 15895,
      "label": "developmental and epileptic encephalopathy, 41",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182,
        25075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080442",
          "GARD:0016190",
          "MEDGEN:934684",
          "OMIM:617105",
          "UMLS:C4310717"
        ],
        "synonyms": [
          "DEE41",
          "EIEE41",
          "SLC1A2 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 41",
          "developmental and epileptic encephalopathy, 41",
          "early infantile epileptic encephalopathy caused by mutation in SLC1A2",
          "epileptic encephalopathy, early infantile, 41",
          "epileptic encephalopathy, early infantile, 41; EIEE41",
          "epileptic encephalopathy, early infantile, type 41"
        ],
        "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 SLC1A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014916"
    },
    {
      "id": 15896,
      "label": "developmental and epileptic encephalopathy, 42",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        23992,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080454",
          "GARD:0016191",
          "MEDGEN:934683",
          "OMIM:617106",
          "UMLS:C4310716"
        ],
        "synonyms": [
          "CACNA1A early infantile epileptic encephalopathy",
          "DEE42",
          "EIEE42",
          "developmental and epileptic encephalopathy 42",
          "early infantile epileptic encephalopathy caused by mutation in CACNA1A",
          "epileptic encephalopathy, early infantile, 42",
          "epileptic encephalopathy, early infantile, 42; EIEE42",
          "epileptic encephalopathy, early infantile, type 42"
        ],
        "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 CACNA1A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014917"
    },
    {
      "id": 15912,
      "label": "developmental and epileptic encephalopathy, 44",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080424",
          "GARD:0016198",
          "MEDGEN:934667",
          "OMIM:617132",
          "UMLS:C4310700"
        ],
        "synonyms": [
          "DEE44",
          "EIEE44",
          "UBA5 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 44",
          "early infantile epileptic encephalopathy caused by mutation in UBA5",
          "epileptic encephalopathy, early infantile, 44",
          "epileptic encephalopathy, early infantile, 44; EIEE44",
          "epileptic encephalopathy, early infantile, type 44"
        ],
        "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 UBA5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014933"
    },
    {
      "id": 15921,
      "label": "developmental and epileptic encephalopathy, 45",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080428",
          "GARD:0016203",
          "MEDGEN:934658",
          "OMIM:617153",
          "UMLS:C4310691"
        ],
        "synonyms": [
          "DEE45",
          "EIEE45",
          "GABRB1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 45",
          "early infantile epileptic encephalopathy caused by mutation in GABRB1",
          "epileptic encephalopathy, early infantile, 45",
          "epileptic encephalopathy, early infantile, 45; EIEE45",
          "epileptic encephalopathy, early infantile, type 45"
        ],
        "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 GABRB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014942"
    },
    {
      "id": 15926,
      "label": "developmental and epileptic encephalopathy, 46",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182,
        29312
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080456",
          "GARD:0016205",
          "MEDGEN:934654",
          "OMIM:617162",
          "UMLS:C4310687"
        ],
        "synonyms": [
          "DEE46",
          "EIEE46",
          "GRIN2D early infantile epileptic encephalopathy",
          "GRIN2D-related DEE",
          "GRIN2D-related complex neurodevelopmental disorder",
          "GRIN2D-related developmental and epileptic encephalopathy",
          "developmental and epileptic encephalopathy 46",
          "early infantile epileptic encephalopathy caused by mutation in GRIN2D",
          "epileptic encephalopathy, early infantile, 46",
          "epileptic encephalopathy, early infantile, 46; EIEE46",
          "epileptic encephalopathy, early infantile, type 46"
        ],
        "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 GRIN2D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014947"
    },
    {
      "id": 15928,
      "label": "developmental and epileptic encephalopathy, 47",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080425",
          "GARD:0016206",
          "MEDGEN:934652",
          "OMIM:617166",
          "UMLS:C4310685"
        ],
        "synonyms": [
          "DEE47",
          "EIEE47",
          "FGF12 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 47",
          "early infantile epileptic encephalopathy caused by mutation in FGF12",
          "epileptic encephalopathy, early infantile, 47",
          "epileptic encephalopathy, early infantile, 47; EIEE47",
          "epileptic encephalopathy, early infantile, type 47"
        ],
        "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 FGF12 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014949"
    }
  ],
  "roots": [
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    }
  ]
}