{
  "id": 11869,
  "label": "X-linked intellectual disability, Schimke type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010729",
  "properties": {
    "xrefs": [
      "GARD:0009288",
      "MEDGEN:374193",
      "MESH:C536630",
      "OMIM:312840",
      "Orphanet:85285",
      "SCTID:719010001",
      "UMLS:C1839320"
    ],
    "synonyms": [
      "Schimke X-linked intellectual disability syndrome",
      "Schimke X-linked mental retardation syndrome",
      "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness",
      "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness",
      "choreoathetosis with intellectual disability X- linked",
      "choreoathetosis with intellectual disability, X-linked",
      "choreoathetosis with mental retardation X- linked",
      "choreoathetosis with mental retardation, X-linked",
      "progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked."
  },
  "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"
    }
  ]
}