{
  "id": 11743,
  "label": "FG syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010590",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4165,
      "label": "FG syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14711",
          "EFO:0009297",
          "ICD9:759.89",
          "MEDGEN:113106",
          "OMIMPS:305450",
          "Orphanet:323",
          "SCTID:49984004",
          "UMLS:C0220769",
          "icd11.foundation:156523187"
        ],
        "synonyms": [
          "Keller syndrome",
          "FGS1",
          "Opitz-Kaveggia syndrome",
          "FGS",
          "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"
          }
        ],
        "definition": "FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential."
      },
      "child_count": 12,
      "reference_id": "MONDO:0002010"
    },
    {
      "id": 23760,
      "label": "MED12-related intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19742
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100000"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4165,
      "label": "FG syndrome"
    },
    {
      "id": 23760,
      "label": "MED12-related intellectual disability syndrome"
    }
  ]
}