{
  "id": 4165,
  "label": "FG syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002010",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 11469,
      "label": "FG syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:337461",
          "OMIM:300321",
          "UMLS:C1845902"
        ],
        "synonyms": [
          "FG syndrome 2",
          "FG syndrome caused by mutation in FLNA",
          "FG syndrome type 2",
          "FLNA FG syndrome",
          "FGS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010297"
    },
    {
      "id": 11486,
      "label": "FG syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:375687",
          "OMIM:300406",
          "UMLS:C1845567"
        ],
        "synonyms": [
          "FG syndrome 3",
          "FGS3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010316"
    },
    {
      "id": 11488,
      "label": "FG syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4165,
        29351
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010318"
    },
    {
      "id": 11532,
      "label": "FG syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:336854",
          "MESH:C564480",
          "OMIM:300581",
          "UMLS:C1845119"
        ],
        "synonyms": [
          "FG syndrome 5",
          "FGS5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010366"
    },
    {
      "id": 11742,
      "label": "Aarskog-Scott syndrome, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        4165,
        20261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6683",
          "GARD:0024738",
          "ICD9:759.89",
          "MEDGEN:61234",
          "MESH:C535331",
          "MedDRA:10067148",
          "NCIT:C129720",
          "OMIM:305400",
          "SCTID:14921002",
          "UMLS:C0175701"
        ],
        "synonyms": [
          "AAS",
          "Aarskog disease",
          "Aarskog syndrome",
          "Aarskog-Scott syndrome",
          "Aarskog-like syndrome",
          "FGD",
          "FGDY",
          "Scott Aarskog syndrome",
          "facio-digito-genital dysplasia",
          "faciodigitogenital syndrome",
          "faciodigitogenital syndrome, recessive",
          "faciogenital dysplasia",
          "Aarskog syndrome, X-linked",
          "Aarskog-Scott syndrome, X-linked",
          "Aarskog-Scott syndrome, X-linked recessive",
          "mental retardation, X-linked syndromic 16, X-linked recessive",
          "MRXS16, included",
          "mental retardation, X-linked, syndromic 16",
          "mental retardation, X-linked, syndromic 16, included",
          "Aarskog Scott syndrome",
          "faciogenital dysplasia with attention Deficit-hyperactivity disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010589"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}