{
  "id": 23681,
  "label": "46,XX sex reversal 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0060489",
  "properties": {
    "xrefs": [
      "DOID:0111764",
      "GARD:0025995",
      "MEDGEN:1373282",
      "OMIM:617480",
      "UMLS:C4479552"
    ],
    "synonyms": [
      "46, XX sex reversal 4",
      "46,XX SEX reversal 4",
      "46,XX Sex reversal, Sry-Negative",
      "SRXX4"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23987,
      "label": "46,XX testicular disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17857
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111760",
          "GARD:0000399",
          "MEDGEN:424734",
          "MESH:D058531",
          "NCIT:C127170",
          "Orphanet:393",
          "UMLS:C2936419",
          "icd11.foundation:1357942532"
        ],
        "synonyms": [
          "46,XX testicular DSD",
          "46,XX testicular differences of sex development",
          "46,XX testicular disorder of sex development",
          "46,XX testicular disorders of Sex development",
          "De la Chapelle syndrome",
          "XX, male syndrome",
          "46, XX gonadal sex reversal",
          "XX Male, Sry-positive",
          "XX male syndrome",
          "XX sex reversal"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100249"
    },
    {
      "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": 23987,
      "label": "46,XX testicular disorder of sex development"
    },
    {
      "id": 29369,
      "label": "NR5A1-related sex development disorder"
    }
  ]
}