{
  "id": 11488,
  "label": "FG syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010318",
  "properties": {
    "xrefs": [
      "MEDGEN:336965",
      "OMIM:300422",
      "UMLS:C1845546"
    ],
    "synonyms": [
      "CASK FG syndrome",
      "CASK-related FG syndrome",
      "FG syndrome 4",
      "FG syndrome caused by mutation in cask",
      "FG syndrome type 4",
      "FGS4",
      "cask FG syndrome",
      "mental retardation, X-linked, with or without Nystagmus"
    ],
    "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 CASK 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": 29351,
      "label": "CASK-related intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19742
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "CASK-related disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic disorder in which the cause of the disease is a variation in the CASK gene. It is associated with a wide phenotypic spectrum ranging from mild-to-severe intellectual disability with or without nystagmus to moderate-to-profound intellectual disability and progressive microcephaly with pontine and cerebellar hypoplasia, often associated with seizures."
      },
      "child_count": 3,
      "reference_id": "MONDO:1060192"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4165,
      "label": "FG syndrome"
    },
    {
      "id": 29351,
      "label": "CASK-related intellectual disability"
    }
  ]
}