{
  "id": 17711,
  "label": "distal Xq28 microduplication syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017404",
  "properties": {
    "xrefs": [
      "DECIPHER:88",
      "GARD:0017350",
      "MEDGEN:1655645",
      "Orphanet:293939",
      "UMLS:C4751127"
    ],
    "synonyms": [
      "Xq28 Microduplication",
      "distal dup(X)q(28)",
      "distal trisomy Xq28"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11596,
      "label": "chromosome Xq28 duplication syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        11456
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015266",
          "MEDGEN:411727",
          "MESH:C567580",
          "OMIM:300815",
          "UMLS:C2749007"
        ],
        "synonyms": [
          "chromosome Xq28 duplication syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0010436"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11596,
      "label": "chromosome Xq28 duplication syndrome"
    }
  ]
}