{
  "id": 22355,
  "label": "developmental and epileptic encephalopathy, 71",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0032678",
  "properties": {
    "xrefs": [
      "DOID:0112207",
      "GARD:0017994",
      "MEDGEN:1680812",
      "OMIM:618328",
      "Orphanet:557064",
      "UMLS:C5193030"
    ],
    "synonyms": [
      "DEE71",
      "EIEE71",
      "developmental and epileptic encephalopathy 71",
      "epileptic encephalopathy, early infantile, 71",
      "neonatal epileptic encephalopathy due to glutaminase deficiency",
      "Glutaminase Deficiency With Neonatal Epileptic Encephalopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 24378,
      "label": "glutaminase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026291"
        ],
        "synonyms": [
          "glutaminase deficiency"
        ],
        "definition": "Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0600001"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    },
    {
      "id": 24378,
      "label": "glutaminase deficiency"
    }
  ]
}