{
  "id": 14688,
  "label": "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013664",
  "properties": {
    "xrefs": [
      "DOID:0111773",
      "GARD:0017752",
      "MEDGEN:333416",
      "MESH:C564109",
      "OMIM:614279",
      "Orphanet:443087",
      "SCTID:49013001",
      "UMLS:C1839840"
    ],
    "synonyms": [
      "46,XY sex reversal type 8",
      "46XY sex reversal 8",
      "46XY sex reversal 8, modifier of",
      "46,XY sex reversal 8",
      "SRXY8",
      "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11904,
      "label": "46,XY complete gonadal dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4130,
        20383,
        21518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14448",
          "GARD:0005068",
          "MEDGEN:445380",
          "MESH:D006061",
          "NCIT:C120198",
          "NORD:1750",
          "OMIMPS:400044",
          "Orphanet:242",
          "SCTID:95218005",
          "UMLS:C2936694"
        ],
        "synonyms": [
          "46 XY gonadal dysgenesis",
          "46, XY CGD",
          "46, XY complete gonadal dysgenesis",
          "46, XY pure gonadal dysgenesis",
          "46,XY CGD",
          "46,XY SEX reversal",
          "46,XY gonadal dysgenesis",
          "46,XY pure gonadal dysgenesis",
          "Swyer syndrome",
          "gonadal dysgenesis, XY female type",
          "sex-reversing locus on X",
          "sex-reversing locus on X, formerly",
          "testis-determining Factor, X-chromosomal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype."
      },
      "child_count": 36,
      "reference_id": "MONDO:0010765"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11904,
      "label": "46,XY complete gonadal dysgenesis"
    }
  ]
}