{
  "id": 18082,
  "label": "distal 17p13.1 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017867",
  "properties": {
    "xrefs": [
      "GARD:0010996",
      "MEDGEN:1657963",
      "Orphanet:319171",
      "UMLS:C4749349"
    ],
    "synonyms": [
      "distal del(17)(p13.1)"
    ],
    "definition": "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14447,
      "label": "chromosome 17p13.1 deletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20965
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060402",
          "GARD:0024922",
          "MEDGEN:462419",
          "OMIM:613776",
          "UMLS:C3151069"
        ],
        "synonyms": [
          "chromosome 17p13.1 deletion syndrome",
          "17p13.1 deletion syndrome"
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0013415"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14447,
      "label": "chromosome 17p13.1 deletion syndrome"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}