{
  "id": 11960,
  "label": "disorder of sex development-intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010824",
  "properties": {
    "xrefs": [
      "GARD:0004550",
      "MEDGEN:325469",
      "MESH:C535693",
      "OMIM:600122",
      "Orphanet:2983",
      "SCTID:719450007",
      "UMLS:C1838611"
    ],
    "synonyms": [
      "Verloes-Gillerot-Fryns syndrome",
      "pseudohermaphroditism-intellectual disability syndrome",
      "Male pseudohermaphroditism intellectual disability syndrome, Verloes type",
      "Verloes Gillerot Fryns syndrome",
      "Verloes syndrome",
      "disorder of sex development intellectual disability",
      "male pseudohermaphroditism/intellectual disability syndrome, Verloes type",
      "male pseudohermaphroditism/mental retardation syndrome, Verloes type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19710,
      "label": "46,XY disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008538",
          "MEDGEN:414114",
          "MESH:D058490",
          "NANDO:2200393",
          "NCIT:C127171",
          "Orphanet:98085",
          "SCTID:8234004",
          "UMLS:C2751824"
        ],
        "synonyms": [
          "46,XY DSD",
          "46,XY differences of Sex development",
          "46,XY disorders of Sex development",
          "46, XY DSD",
          "46, XY disorders of sexual development",
          "46, XY female",
          "XY female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Differences of sex development in individuals with 46,XY karyotype."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020040"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}