{
  "id": 24430,
  "label": "complete trisomy 18",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700032",
  "properties": {
    "xrefs": [
      "GARD:0026329",
      "MEDGEN:56262",
      "UMLS:C0152096"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18234,
      "label": "trisomy 18",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        24461,
        24520
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1085",
          "GARD:0006321",
          "ICD9:758.2",
          "MEDGEN:1384417",
          "MESH:C580500",
          "MedDRA:10053884",
          "NANDO:2200963",
          "NCIT:C36626",
          "NORD:1797",
          "Orphanet:3380",
          "SCTID:51500006",
          "UMLS:C4317091",
          "icd11.foundation:1505179968"
        ],
        "synonyms": [
          "E3 trisomy",
          "Edwards syndrome",
          "chromosome 18 duplication",
          "complete trisomy 18 syndrome",
          "trisomy 18",
          "trisomy type 18",
          "18 trisomy",
          "chromosome 18 trisomy",
          "trisomy 16-18 (formerly)",
          "trisomy E (formerly)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations."
      },
      "child_count": 6,
      "reference_id": "MONDO:0018071"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18234,
      "label": "trisomy 18"
    }
  ]
}