{
  "id": 17861,
  "label": "11p15.4 microduplication syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017580",
  "properties": {
    "xrefs": [
      "GARD:0021232",
      "MEDGEN:1660019",
      "Orphanet:300305",
      "UMLS:C4749508"
    ],
    "synonyms": [
      "dup(11)p(15.4)",
      "trisomy 11p15.4"
    ],
    "definition": "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities."
  },
  "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": 17363,
      "label": "partial duplication of the short arm of chromosome 11",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1825972",
          "Orphanet:262785",
          "UMLS:C5679716"
        ],
        "synonyms": [
          "partial duplication of chromosome 11p",
          "partial duplication of the short arm of chromosome type 11",
          "partial trisomy of chromosome 11p",
          "partial trisomy of the short arm of chromosome 11"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016948"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019213",
          "MEDGEN:458929",
          "NCIT:C94828",
          "Orphanet:93460",
          "UMLS:C2986703",
          "icd11.foundation:2113355045"
        ],
        "definition": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
      },
      "child_count": 31,
      "reference_id": "MONDO:0019716"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17363,
      "label": "partial duplication of the short arm of chromosome 11"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    }
  ]
}