{
  "id": 23760,
  "label": "MED12-related intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100000",
  "properties": {
    "xrefs": [
      "GARD:0026013"
    ],
    "synonyms": [
      "MED12 X-linked syndromic intellectual disability",
      "MED12-related intellectual disability syndrome",
      "X-linked syndromic intellectual disability caused by mutation in MED12"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 11635,
      "label": "blepharophimosis - intellectual disability syndrome, MKB type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3111,
        4427,
        23760
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017341",
          "ICD9:759.89",
          "MEDGEN:785805",
          "OMIM:300895",
          "Orphanet:293707",
          "SCTID:699297004",
          "UMLS:C3698541"
        ],
        "synonyms": [
          "BMRS, MKB type",
          "BMRS, Maat-Kievit-Brunner type",
          "Ohdo syndrome, X-linked, X-linked recessive",
          "X-linked Ohdo syndrome",
          "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type",
          "OHDOX",
          "Ohdo syndrome, X-linked",
          "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010477"
    },
    {
      "id": 11743,
      "label": "FG syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4165,
        23760
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002317",
          "MEDGEN:1768809",
          "NORD:1142",
          "OMIM:305450",
          "Orphanet:93932",
          "SCTID:1237179007",
          "UMLS:C5399762"
        ],
        "synonyms": [
          "FG Syndrome Type 1",
          "FG syndrome 1",
          "FG syndrome caused by mutation in MED12",
          "MED12 FG syndrome",
          "Opitz-Kaveggia syndrome, X-linked recessive",
          "FG syndrome",
          "FG syndrome type 1",
          "Keller syndrome",
          "OKS",
          "Opitz-Kaveggia syndrome",
          "intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum",
          "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010590"
    },
    {
      "id": 11801,
      "label": "X-linked intellectual disability with marfanoid habitus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        23760
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080985",
          "GARD:0003307",
          "MEDGEN:167096",
          "MESH:C537724",
          "OMIM:309520",
          "Orphanet:776",
          "SCTID:422437002",
          "UMLS:C0796022"
        ],
        "synonyms": [
          "Lujan syndrome",
          "Lujan-Fryns syndrome",
          "Lujan-Fryns syndrome, X-linked recessive",
          "LUJAN-Fryns syndrome",
          "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies",
          "intellectual disability, X-linked, with Marfanoid habitus",
          "mental retardation, X-linked, with Marfanoid habitus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010655"
    }
  ],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}