{
  "id": 14610,
  "label": "mosaic variegated aneuploidy syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013582",
  "properties": {
    "xrefs": [
      "DOID:0080142",
      "GARD:0015758",
      "MEDGEN:481473",
      "NCIT:C168989",
      "OMIM:614114",
      "UMLS:C3279843"
    ],
    "synonyms": [
      "CEP57 mosaic variegated aneuploidy syndrome",
      "Mosaic variegated aneuploidy syndrome type 2",
      "mosaic variegated aneuploidy syndrome 2",
      "mosaic variegated aneuploidy syndrome caused by mutation in CEP57",
      "mosaic variegated aneuploidy syndrome type 2",
      "MOSAIC variegated aneuploidy syndrome 2",
      "MVA2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2740,
      "label": "mosaic variegated aneuploidy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218,
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080688",
          "GARD:0003007",
          "ICD9:758.89",
          "MEDGEN:1641418",
          "MESH:C536987",
          "OMIMPS:257300",
          "Orphanet:1052",
          "SCTID:700056005",
          "UMLS:C4551972",
          "icd11.foundation:398235351"
        ],
        "synonyms": [
          "Warburton-Anyane-Yeboa syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition."
      },
      "child_count": 14,
      "reference_id": "MONDO:0000141"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2740,
      "label": "mosaic variegated aneuploidy syndrome"
    }
  ]
}