{
  "id": 19252,
  "label": "X-linked intellectual disability-acromegaly-hyperactivity syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019424",
  "properties": {
    "xrefs": [
      "GARD:0019060",
      "MEDGEN:930076",
      "Orphanet:85327",
      "UMLS:C4304407"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060309",
          "OMIMPS:309510",
          "Orphanet:98464"
        ],
        "synonyms": [
          "X-linked syndromic intellectual disability",
          "intellectual disability, X-linked syndromic",
          "mental retardation, X-linked syndromic",
          "syndromic X-linked intellectual disability",
          "syndromic intellectual disability, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability with an X-linked mode of inheritance."
      },
      "child_count": 162,
      "reference_id": "MONDO:0020119"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}