{
  "id": 22027,
  "label": "developmental and epileptic encephalopathy 101",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030727",
  "properties": {
    "xrefs": [
      "DOID:0070387",
      "GARD:0025626",
      "MEDGEN:1805172",
      "OMIM:619814",
      "UMLS:C5676955"
    ],
    "synonyms": [
      "DEE101",
      "developmental and epileptic encephalopathy 101"
    ],
    "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": 29306,
      "label": "GRIN1-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29312
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028154"
        ],
        "synonyms": [
          "GRIN1-related developmental and epileptic encephalopathy",
          "GRIN1-related neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder caused by variation in the GRIN1 gene. It is characterized by mild-to-profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria."
      },
      "child_count": 3,
      "reference_id": "MONDO:1060123"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    },
    {
      "id": 29306,
      "label": "GRIN1-related complex neurodevelopmental disorder"
    }
  ]
}