{
  "id": 11621,
  "label": "syndromic X-linked intellectual disability Chudley-Schwartz type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010462",
  "properties": {
    "xrefs": [
      "DOID:0060819",
      "GARD:0024727",
      "MEDGEN:477102",
      "OMIM:300861",
      "UMLS:C3275471"
    ],
    "synonyms": [
      "MRXSCS",
      "X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance",
      "intellectual disability, X-linked, syndromic, Chudley-Schwartz type",
      "mental retardation, X-linked, syndromic, Chudley-Schwartz type",
      "mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive",
      "intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance",
      "mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23."
  },
  "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"
    }
  ]
}