{
  "id": 11802,
  "label": "intellectual disability, X-linked 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010656",
  "properties": {
    "xrefs": [
      "DOID:0112038",
      "GARD:0022699",
      "MEDGEN:444070",
      "MESH:C564489",
      "MESH:C567906",
      "NCIT:C133729",
      "OMIM:309530",
      "Orphanet:397933",
      "UMLS:C2931498"
    ],
    "synonyms": [
      "IQSEC2-related disorder",
      "IQSEC2-related syndromic intellectual disability",
      "MRX",
      "MRX1",
      "MRX78",
      "intellectual developmental disorder, X-linked 1, X-linked dominant",
      "intellectual disability, X-linked 1",
      "mental retardation, X-linked 1",
      "mental retardation, X-linked 18",
      "mental retardation, X-linked 78",
      "mental retardation, X-linked type 1",
      "IQSEC2",
      "IQSEC2-related epilepsy",
      "IQSEC2-related intellectual disability",
      "X-linked intellectual disability 1",
      "X-linked intellectual disability 1/78",
      "X-linked intellectual disability 78",
      "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19054,
      "label": "non-syndromic X-linked intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2962,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050776",
          "GARD:0018640",
          "MEDGEN:502019",
          "MESH:C564490",
          "OMIMPS:309530",
          "Orphanet:777",
          "UMLS:C3501611"
        ],
        "synonyms": [
          "X-linked non-specific intellectual disability",
          "X-linked non-syndromic intellectual disability",
          "intellectual disability, X-linked, nonsyndromic",
          "intellectual disability, nonsyndromic, X-linked",
          "mental retardation, X-linked, nonsyndromic",
          "mental retardation, nonsyndromic, X-linked",
          "non-specific X-linked intellectual disability",
          "non-syndromic X-linked intellectual disability",
          "non-syndromic intellectual disability, X-linked",
          "nonsyndromic X-linked intellectual disability",
          "isolated X-linked intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX."
      },
      "child_count": 104,
      "reference_id": "MONDO:0019181"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19054,
      "label": "non-syndromic X-linked intellectual disability"
    }
  ]
}