{
  "id": 18630,
  "label": "20q11.2 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018633",
  "properties": {
    "xrefs": [
      "GARD:0021859",
      "MEDGEN:1810637",
      "Orphanet:444051",
      "UMLS:C5680063"
    ],
    "synonyms": [
      "Del(20)(q11.2)",
      "monosomy 20q11"
    ],
    "definition": "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported."
  },
  "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": 17336,
      "label": "partial deletion of the long arm of chromosome 20",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17307
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826048",
          "Orphanet:262164",
          "UMLS:C5679730",
          "icd11.foundation:27627438"
        ],
        "synonyms": [
          "partial deletion of chromosome 20q",
          "partial deletion of the long arm of chromosome type 20",
          "partial monosomy of chromosome 20q",
          "partial monosomy of the long arm of chromosome 20"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016918"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17336,
      "label": "partial deletion of the long arm of chromosome 20"
    }
  ]
}