{
  "id": 17653,
  "label": "microtriplication 11q24.1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017335",
  "properties": {
    "xrefs": [
      "GARD:0021142",
      "MEDGEN:1656562",
      "Orphanet:289522",
      "UMLS:C4749373"
    ],
    "synonyms": [
      "tetrasomy 11q24.1"
    ],
    "definition": "Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia."
  },
  "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": 20824,
      "label": "chromosome 11q trisomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020882",
          "MEDGEN:167075",
          "MESH:C538297",
          "Orphanet:262923",
          "UMLS:C0795842"
        ],
        "synonyms": [
          "11q duplication",
          "11q trisomy",
          "Duplication 11q",
          "chromosome 11q duplication",
          "partial duplication of chromosome 11q",
          "partial duplication of the long arm of chromosome 11",
          "partial duplication of the long arm of chromosome type 11",
          "partial trisomy 11q",
          "partial trisomy of chromosome 11q",
          "partial trisomy of the long arm of chromosome 11",
          "trisomy 11q"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0022173"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 20824,
      "label": "chromosome 11q trisomy"
    }
  ]
}