{
  "id": 14104,
  "label": "46,XY sex reversal 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013066",
  "properties": {
    "xrefs": [
      "DOID:0111772",
      "GARD:0015598",
      "MEDGEN:483746",
      "NANDO:1200405",
      "OMIM:612965",
      "UMLS:C3489793"
    ],
    "synonyms": [
      "46,XY Sex reversal type 3",
      "46,XY sex reversal 3",
      "46XY sex reversal 3",
      "46,XY SEX reversal 3",
      "46,XY Sex reversal, partial or complete, Nr5A1-related",
      "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure",
      "SRXY3",
      "Sex reversal, XY, with or without adrenal failure",
      "disorder of Sex development, 46,XY, Nr5A1-related"
    ],
    "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"
    },
    {
      "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"
    },
    {
      "id": 29369,
      "label": "NR5A1-related sex development disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6772
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "NR5A1-related sex development disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female."
      },
      "child_count": 8,
      "reference_id": "MONDO:1060211"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11904,
      "label": "46,XY complete gonadal dysgenesis"
    },
    {
      "id": 17141,
      "label": "46,XY partial gonadal dysgenesis"
    },
    {
      "id": 29369,
      "label": "NR5A1-related sex development disorder"
    }
  ]
}