{
  "id": 23936,
  "label": "X-linked intellectual disability with hypopituitarism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100195",
  "properties": {
    "xrefs": [
      "GARD:0026078"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": [
    {
      "id": 11427,
      "label": "intellectual disability, X-linked, with panhypopituitarism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024714",
          "MEDGEN:394771",
          "OMIM:300123",
          "UMLS:C2678223"
        ],
        "synonyms": [
          "intellectual developmental disorder, X-linked, with isolated growth hormone deficiency",
          "intellectual disability, X-linked, with panhypopituitarism",
          "intellectual disability, X-linked, with isolated Growth hormone deficiency",
          "mental retardation, X-linked, with isolated Growth hormone deficiency",
          "mental retardation, X-linked, with panhypopituitarism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010252"
    }
  ],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}