{
  "id": 8996,
  "label": "chromosome 16p12.1 deletion syndrome, 520kb",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007631",
  "properties": {
    "xrefs": [
      "DECIPHER:92",
      "DOID:0060399",
      "GARD:0024567",
      "MEDGEN:460626",
      "MESH:C565001",
      "NCIT:C129875",
      "OMIM:136570",
      "UMLS:C3149276"
    ],
    "synonyms": [
      "Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)",
      "chromosome 16p12.1 deletion syndrome",
      "chromosome 16p12.1 deletion syndrome, type 520kb",
      "chromosome 16p12.1 deletion syndrome, 520-KB",
      "fragile site 16P12",
      "fragile site, Distamycin a type, Rare, fra(16)(p12.1)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects."
  },
  "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": 17317,
      "label": "partial deletion of the short arm of chromosome 16",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17303
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1825967",
          "Orphanet:261956",
          "UMLS:C5679670",
          "icd11.foundation:934406879"
        ],
        "synonyms": [
          "partial deletion of chromosome 16p",
          "partial deletion of the short arm of chromosome type 16",
          "partial monosomy of chromosome 16p",
          "partial monosomy of the short arm of chromosome 16"
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0016894"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17317,
      "label": "partial deletion of the short arm of chromosome 16"
    }
  ]
}