{
  "id": 18340,
  "label": "2p13.2 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018207",
  "properties": {
    "xrefs": [
      "GARD:0021557",
      "MEDGEN:1662313",
      "Orphanet:363680",
      "UMLS:C4749460"
    ],
    "synonyms": [
      "Del(2)(p13.2)"
    ],
    "definition": "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy."
  },
  "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": 17309,
      "label": "partial deletion of the short arm of chromosome 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826019",
          "Orphanet:261866",
          "UMLS:C5679664",
          "icd11.foundation:1610083208"
        ],
        "synonyms": [
          "partial deletion of chromosome 2p",
          "partial deletion of the short arm of chromosome type 2",
          "partial monosomy of chromosome 2p",
          "partial monosomy of the short arm of chromosome 2"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0016884"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17309,
      "label": "partial deletion of the short arm of chromosome 2"
    }
  ]
}