{
  "id": 15715,
  "label": "PMP22-RAI1 contiguous gene duplication syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014723",
  "properties": {
    "xrefs": [
      "GARD:0017859",
      "MEDGEN:894862",
      "OMIM:616652",
      "Orphanet:477817",
      "UMLS:C4225255"
    ],
    "synonyms": [
      "17p11.2p12 microduplication syndrome",
      "YUHAL",
      "Yuan-Harel-Lupski syndrome",
      "dup(17)(p11.2p12)",
      "trisomy 17p11.2-p12",
      "trisomy 17p11.2p12",
      "YUAN-Harel-Lupski syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 17380,
      "label": "partial duplication of the long arm of chromosome 17",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17351
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826032",
          "Orphanet:262968",
          "UMLS:C5679698",
          "icd11.foundation:1871996278"
        ],
        "synonyms": [
          "partial duplication of chromosome 17q",
          "partial duplication of the long arm of chromosome type 17",
          "partial trisomy of chromosome 17q",
          "partial trisomy of the long arm of chromosome 17",
          "17q duplication",
          "17q trisomy",
          "Duplication 17q",
          "chromosome 17q duplication",
          "partial trisomy 17q",
          "trisomy 17q"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0016967"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 17380,
      "label": "partial duplication of the long arm of chromosome 17"
    }
  ]
}