{
  "id": 17975,
  "label": "atypical Rett syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017746",
  "properties": {
    "xrefs": [
      "GARD:0004694",
      "MEDGEN:440664",
      "NANDO:1200605",
      "Orphanet:3095",
      "SCTID:718393002",
      "UMLS:C2748910",
      "icd11.foundation:605088126"
    ],
    "synonyms": [
      "Rett syndrome variant",
      "atypical RTT",
      "Rett like syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 24488,
      "label": "neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0010642",
          "MEDGEN:453059",
          "MESH:D065886",
          "MedDRA:10064062",
          "NCIT:C89338",
          "SCTID:700364009",
          "UMLS:C1535926"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions."
      },
      "child_count": 18,
      "reference_id": "MONDO:0700092"
    }
  ],
  "children": [
    {
      "id": 11557,
      "label": "developmental and epileptic encephalopathy, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16437,
        17975,
        18257,
        23792,
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080467",
          "GARD:0018617",
          "MEDGEN:1663579",
          "MESH:C564064",
          "OMIM:300672",
          "Orphanet:505652",
          "UMLS:C4750718"
        ],
        "synonyms": [
          "CDKL5 early infantile epileptic encephalopathy",
          "DEE2",
          "EIEE2",
          "developmental and epileptic encephalopathy 2, X-linked dominant",
          "developmental and epileptic encephalopathy, 2",
          "early infantile epileptic encephalopathy caused by mutation in CDKL5",
          "epileptic encephalopathy, early infantile, 2",
          "epileptic encephalopathy, early infantile, type 2",
          "infantile spasm syndrome, X-linked 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "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 CDKL5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010396"
    },
    {
      "id": 23793,
      "label": "FOXG1 disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3009,
        4427,
        17975,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070657",
          "GARD:0026022",
          "ICD10CM:F84.8",
          "MEDGEN:462055",
          "NCIT:C176903",
          "OMIM:613454",
          "Orphanet:561854",
          "Orphanet:598164",
          "UMLS:C3150705"
        ],
        "synonyms": [
          "FOXG1 disorder",
          "FOXG1 inherited genetic disease",
          "FOXG1 syndrome",
          "FOXG1 syndrome due to intragenic alteration",
          "FOXG1-related epileptic-dyskinetic encephalopathy",
          "Rett syndrome, congenital variant",
          "inherited genetic disease caused by mutation in FOXG1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A monogenic disease that has material basis in mutation in the FOXG1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100040"
    }
  ],
  "roots": [
    {
      "id": 24488,
      "label": "neurodevelopmental disorder"
    }
  ]
}