{
  "id": 15302,
  "label": "chromosome 5q12 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014298",
  "properties": {
    "xrefs": [
      "DOID:0060421",
      "GARD:0017742",
      "MEDGEN:816612",
      "OMIM:615668",
      "Orphanet:439822",
      "UMLS:C3810282"
    ],
    "synonyms": [
      "chromosome 5q12 deletion syndrome",
      "PDE4D haploinsufficiency syndrome"
    ],
    "definition": "PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin."
  },
  "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"
    }
  ]
}