{
  "id": 9268,
  "label": "46,XY sex reversal 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007938",
  "properties": {
    "xrefs": [
      "DOID:0111771",
      "GARD:0015083",
      "MEDGEN:416704",
      "MESH:C567887",
      "NCIT:C132270",
      "OMIM:154230",
      "UMLS:C2752149"
    ],
    "synonyms": [
      "46,XY Sex reversal type 4",
      "46,XY sex reversal 4",
      "46XY sex reversal 4, Isolated cases",
      "46,XY SEX reversal 4",
      "46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion",
      "SRXY4",
      "chromosome 9P24.3 deletion syndrome"
    ],
    "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": "Sex reversal in an individual associated with a 9p24.3 deletion."
  },
  "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"
    },
    {
      "id": 17141,
      "label": "46,XY partial gonadal dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017211",
          "MEDGEN:1388250",
          "Orphanet:251510",
          "SCTID:725045004",
          "UMLS:C4510744"
        ],
        "synonyms": [
          "46,XY PGD",
          "46,XY partial testicular dysgenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype."
      },
      "child_count": 7,
      "reference_id": "MONDO:0016674"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11904,
      "label": "46,XY complete gonadal dysgenesis"
    },
    {
      "id": 17141,
      "label": "46,XY partial gonadal dysgenesis"
    }
  ]
}