{
  "id": 11742,
  "label": "Aarskog-Scott syndrome, X-linked",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010589",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "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": 20261,
      "label": "faciodigitogenital syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111824",
          "GARD:0004775",
          "MedDRA:10067148",
          "Orphanet:915"
        ],
        "synonyms": [
          "Aarskog syndrome",
          "Aarskog-Scott syndrome",
          "faciogenital dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome."
      },
      "child_count": 3,
      "reference_id": "MONDO:0021005"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 4165,
      "label": "FG syndrome"
    },
    {
      "id": 20261,
      "label": "faciodigitogenital syndrome"
    }
  ]
}