{
  "id": 18337,
  "label": "20q11.2 microduplication syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018204",
  "properties": {
    "xrefs": [
      "GARD:0021556",
      "MEDGEN:1639138",
      "Orphanet:363659",
      "SCTID:763061004",
      "UMLS:C4706257"
    ],
    "synonyms": [
      "dup(20)(q11.2)"
    ],
    "definition": "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features."
  },
  "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": 17383,
      "label": "partial trisomy of the long arm of chromosome 20",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17354
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826031",
          "Orphanet:262995",
          "UMLS:C5679695",
          "icd11.foundation:1196484734"
        ],
        "synonyms": [
          "partial duplication of chromosome 20q",
          "partial duplication of the long arm of chromosome 20",
          "partial trisomy of chromosome 20q",
          "partial trisomy of the long arm of chromosome type 20"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016970"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17383,
      "label": "partial trisomy of the long arm of chromosome 20"
    }
  ]
}