{
  "id": 23356,
  "label": "16p12.1p12.3 triplication syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044621",
  "properties": {
    "xrefs": [
      "GARD:0021993",
      "MEDGEN:1814451",
      "Orphanet:485405",
      "UMLS:C5680097"
    ],
    "synonyms": [
      "tetrasomy 16p12.1-p12.3",
      "tetrasomy 16p12.1p12.3",
      "trip(16)(p12.1p12.3)"
    ],
    "definition": "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17364,
      "label": "partial duplication of the short arm of chromosome 16",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17350
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:208643",
          "Orphanet:262794",
          "UMLS:C0795861",
          "icd11.foundation:325064766"
        ],
        "synonyms": [
          "partial duplication of chromosome 16p",
          "partial duplication of the short arm of chromosome type 16",
          "partial trisomy of chromosome 16p",
          "partial trisomy of the short arm of chromosome 16",
          "16p duplication",
          "16p trisomy",
          "Duplication 16p",
          "chromosome 16p duplication",
          "partial trisomy 16p",
          "trisomy 16p"
        ],
        "definition": "Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016949"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17364,
      "label": "partial duplication of the short arm of chromosome 16"
    }
  ]
}