{
  "id": 2740,
  "label": "mosaic variegated aneuploidy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000141",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 18950,
      "label": "chromosomal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080014",
          "ICD10CM:Q90-Q99",
          "ICD9:758.89",
          "MEDGEN:3441",
          "MESH:D025063",
          "NANDO:1100014",
          "NANDO:2100279",
          "NANDO:2100280",
          "NCIT:C34470",
          "Orphanet:68335",
          "SCTID:409709004",
          "UMLS:C0008626"
        ],
        "synonyms": [
          "chromosomal disease",
          "chromosomal disorder",
          "chromosomal disorders",
          "chromosome disorder",
          "disorder, chromosomal",
          "disorder, chromosome",
          "disorders, chromosomal",
          "disorders, chromosome",
          "autosomal chromosome disorder",
          "autosomal chromosome disorders",
          "chromosome abnormality disorder",
          "chromosome abnormality disorders",
          "chromosome disorder, autosomal",
          "chromosome disorders, autosomal",
          "disorder, chromosome abnormality"
        ],
        "definition": "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)"
      },
      "child_count": 18,
      "reference_id": "MONDO:0019040"
    }
  ],
  "children": [
    {
      "id": 10969,
      "label": "mosaic variegated aneuploidy syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2740
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080141",
          "GARD:0024694",
          "MEDGEN:338026",
          "NCIT:C128192",
          "OMIM:257300",
          "UMLS:C1850343"
        ],
        "synonyms": [
          "BUB1B mosaic variegated aneuploidy syndrome",
          "Mosaic variegated aneuploidy syndrome type 1",
          "mosaic variegated aneuploidy syndrome 1",
          "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B",
          "mosaic variegated aneuploidy syndrome type 1",
          "MOSAIC variegated aneuploidy syndrome 1",
          "MVA syndrome",
          "MVA1"
        ],
        "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 BUB1B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009759"
    },
    {
      "id": 14610,
      "label": "mosaic variegated aneuploidy syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2740
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013582"
    },
    {
      "id": 23603,
      "label": "mosaic variegated aneuploidy syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2740
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080689",
          "GARD:0016240",
          "MEDGEN:1616382",
          "OMIM:617598",
          "UMLS:C4539839"
        ],
        "synonyms": [
          "MOSAIC variegated aneuploidy syndrome 3",
          "MVA3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054736"
    },
    {
      "id": 25461,
      "label": "mosaic variegated aneuploidy syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2740
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060981",
          "GARD:0026702",
          "MEDGEN:1824040",
          "OMIM:620153",
          "UMLS:C5774267"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859329"
    },
    {
      "id": 25475,
      "label": "mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2740
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060982",
          "GARD:0026709",
          "MEDGEN:1824057",
          "OMIM:620189",
          "UMLS:C5774284"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859346"
    },
    {
      "id": 25543,
      "label": "Atelis syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2740,
        25511
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026748",
          "MEDGEN:1824054",
          "OMIM:620184",
          "UMLS:C5774281"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859575"
    },
    {
      "id": 25544,
      "label": "Atelis syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2740,
        25511
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026749",
          "MEDGEN:1824055",
          "OMIM:620185",
          "UMLS:C5774282"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859576"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 18950,
      "label": "chromosomal disorder"
    }
  ]
}