{
  "id": 15926,
  "label": "developmental and epileptic encephalopathy, 46",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014947",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18615,
      "label": "undetermined early-onset epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19084,
        19723,
        19724,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 64,
      "reference_id": "MONDO:0018614"
    },
    {
      "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"
    },
    {
      "id": 29312,
      "label": "GRIN-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028156"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved."
      },
      "child_count": 8,
      "reference_id": "MONDO:1060138"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18615,
      "label": "undetermined early-onset epileptic encephalopathy"
    },
    {
      "id": 24182,
      "label": "neonatal-onset developmental and epileptic encephalopathy"
    },
    {
      "id": 29312,
      "label": "GRIN-related complex neurodevelopmental disorder"
    }
  ]
}