{
  "id": 11866,
  "label": "Rett syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010726",
  "properties": {
    "xrefs": [
      "DOID:1206",
      "GARD:0005696",
      "ICD9:330.8",
      "MEDGEN:48441",
      "MESH:D015518",
      "MedDRA:10039000",
      "NANDO:1200603",
      "NANDO:1200604",
      "NANDO:2100219",
      "NANDO:2200825",
      "NCIT:C75488",
      "NORD:1666",
      "OMIM:312750",
      "Orphanet:778",
      "SCTID:68618008",
      "UMLS:C0035372",
      "icd11.foundation:201200685"
    ],
    "synonyms": [
      "RTS",
      "RTT",
      "Rett syndrome",
      "Rett syndrome, X-linked dominant",
      "Rett syndrome, atypical, X-linked dominant",
      "Rett syndrome, preserved speech variant, X-linked dominant",
      "Rett’s disease",
      "Rett syndrome, Zappella variant",
      "Rett syndrome, atypical",
      "Rett syndrome, preserved speech variant",
      "autism, dementia, ataxia, and loss of purposeful hand use"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A severe neurodevelopmental disorder affecting the central nervous system."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3009,
      "label": "pervasive developmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7159,
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060040",
          "GARD:0027041",
          "ICD9:299.80",
          "MEDGEN:99336",
          "MESH:D002659",
          "NCIT:C97179",
          "SCTID:35919005",
          "UMLS:C0524528"
        ],
        "synonyms": [
          "pervasive child development disorders",
          "pervasive development disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions."
      },
      "child_count": 10,
      "reference_id": "MONDO:0000594"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3009,
      "label": "pervasive developmental disorder"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}