{
  "id": 24713,
  "label": "DNM1-encephalopathy and neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700339",
  "properties": {
    "xrefs": [
      "GARD:0027295"
    ],
    "synonyms": [
      "DNM1-related DEE",
      "DNM1-related developmental and epileptic encephalopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A developmental and epileptic encephalopathy in which the cause of the disease is a variation in the DNM1 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    }
  ],
  "children": [
    {
      "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": 25621,
      "label": "developmental and epileptic encephalopathy, 31B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070376",
          "GARD:0026796",
          "MEDGEN:1841095",
          "OMIM:620352",
          "UMLS:C5830459"
        ],
        "synonyms": [
          "DNM1-encephalopathy and neurodevelopmental disorder",
          "DEE31B",
          "developmental and epileptic encephalopathy 31B, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0957248"
    }
  ],
  "roots": [
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    }
  ]
}