{
  "id": 18234,
  "label": "trisomy 18",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018071",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 24461,
      "label": "trisomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24460
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:21702",
          "MESH:D014314",
          "NCIT:C3421",
          "UMLS:C0041107"
        ],
        "synonyms": [
          "chromosomal triplication"
        ],
        "definition": "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number."
      },
      "child_count": 23,
      "reference_id": "MONDO:0700065"
    },
    {
      "id": 24520,
      "label": "chromosome 18 disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19716
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome 18 is affected."
      },
      "child_count": 6,
      "reference_id": "MONDO:0700125"
    }
  ],
  "children": [
    {
      "id": 24429,
      "label": "mosaic trisomy 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18234
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026328"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700031"
    },
    {
      "id": 24430,
      "label": "complete trisomy 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18234
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700032"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24461,
      "label": "trisomy"
    },
    {
      "id": 24520,
      "label": "chromosome 18 disorder"
    }
  ]
}