{
  "id": 14094,
  "label": "developmental and epileptic encephalopathy, 39",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013056",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17234,
      "label": "mitochondrial substrate carrier disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17233
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020762",
          "MEDGEN:1842923",
          "Orphanet:254830",
          "UMLS:C5680716",
          "icd11.foundation:1118834100"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016801"
    },
    {
      "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": 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": 17234,
      "label": "mitochondrial substrate carrier disorder"
    },
    {
      "id": 19723,
      "label": "neonatal epilepsy syndrome"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy"
    }
  ]
}