{
  "id": 18615,
  "label": "undetermined early-onset epileptic encephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018614",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 16,
  "parents": [
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018948",
          "ICD9:270.0",
          "MEDGEN:541381",
          "Orphanet:79166",
          "SCTID:16784003",
          "UMLS:C0268641",
          "icd11.foundation:1631611896"
        ],
        "synonyms": [
          "inborn disorder of amino acid absorption and transport",
          "disorder of amino acid absorption and transport"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0019216"
    },
    {
      "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"
    },
    {
      "id": 19724,
      "label": "infantile epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020071"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "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": 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": 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": 19084,
      "label": "inborn disorder of amino acid transport"
    },
    {
      "id": 19723,
      "label": "neonatal epilepsy syndrome"
    },
    {
      "id": 19724,
      "label": "infantile epilepsy syndrome"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}