{
  "id": 20119,
  "label": "46,XY sex reversal 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020712",
  "properties": {
    "xrefs": [
      "DOID:0111778",
      "GARD:0025219",
      "MEDGEN:412662",
      "NCIT:C128188",
      "OMIM:400044",
      "UMLS:C2748896"
    ],
    "synonyms": [
      "46,XY gonadal dysgenesis, complete, SRY-related",
      "46,XY sex reversal 1",
      "46,XY sex reversal type 1",
      "46,XY sex reversal, SRY-related",
      "46,XY true hermaphroditism, SRY-related",
      "46XY sex reversal 1, Y-linked",
      "SRXY1"
    ],
    "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"
    }
  ]
}