{
  "id": 16967,
  "label": "5q14.3 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016456",
  "properties": {
    "xrefs": [
      "GARD:0012166",
      "MEDGEN:930198",
      "Orphanet:228384",
      "SCTID:719661007",
      "UMLS:C4304529"
    ],
    "synonyms": [
      "Del(5)(q14.3)",
      "monosomy 5q14.3",
      "5q14.3 deletion syndrome",
      "autosomal dominant intellectual disability 20",
      "chromosome 5q14.3 deletion syndrome"
    ],
    "definition": "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy."
  },
  "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": 17323,
      "label": "partial deletion of the long arm of chromosome 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:262038",
          "icd11.foundation:285885131"
        ],
        "synonyms": [
          "partial deletion of chromosome 5q",
          "partial deletion of the long arm of chromosome type 5",
          "partial monosomy of chromosome 5q",
          "partial monosomy of the long arm of chromosome 5"
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016904"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17323,
      "label": "partial deletion of the long arm of chromosome 5"
    }
  ]
}