{
  "id": 11563,
  "label": "syndromic X-linked intellectual disability 94",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010402",
  "properties": {
    "xrefs": [
      "DOID:0060823",
      "GARD:0027794",
      "MEDGEN:437111",
      "MESH:C567479",
      "OMIM:300699",
      "Orphanet:364028",
      "UMLS:C2678051"
    ],
    "synonyms": [
      "MRX94",
      "MRXS29",
      "intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive",
      "intellectual disability, X-linked 94",
      "mental retardation, X-linked 94",
      "syndromic X-linked intellectual disability 29",
      "syndromic X-linked intellectual disability 94",
      "syndromic X-linked intellectual disability Wu type",
      "syndromic X-linked intellectual disability type 94",
      "MRXSW",
      "intellectual disability, X-linked, syndromic 29",
      "intellectual disability, X-linked, syndromic, Wu type",
      "mental retardation, X-linked, syndromic 29",
      "mental retardation, X-linked, syndromic, Wu type"
    ],
    "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 with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25."
  },
  "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"
    }
  ]
}