{
  "id": 23987,
  "label": "46,XX testicular disorder of sex development",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100249",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 17857,
      "label": "46,XX disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018783",
          "MEDGEN:424728",
          "MESH:D058489",
          "NCIT:C127169",
          "Orphanet:2982",
          "SCTID:8800006",
          "UMLS:C2936403"
        ],
        "synonyms": [
          "46,XX DSD",
          "46,XX differences of Sex development",
          "46,XX disorders of Sex development",
          "female pseudohermaphroditism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017576"
    }
  ],
  "children": [
    {
      "id": 11396,
      "label": "46,XX sex reversal 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23987
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111763",
          "GARD:0015249",
          "MEDGEN:411414",
          "OMIM:278850",
          "UMLS:C2749215"
        ],
        "synonyms": [
          "46,XX Sex reversal type 2",
          "46,XX sex reversal 2",
          "46XX sex reversal 2",
          "46,XX SEX reversal 2",
          "SRXX2",
          "chromosome 17Q24 Duplication syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010218"
    },
    {
      "id": 11602,
      "label": "46,XX sex reversal 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23987
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111762",
          "GARD:0015267",
          "MEDGEN:463132",
          "OMIM:300833",
          "UMLS:C3151782"
        ],
        "synonyms": [
          "46,XX Sex reversal type 3",
          "46,XX sex reversal 3",
          "46XX sex reversal 3, X-linked dominant",
          "46,XX SEX reversal 3",
          "46,XX Sex reversal, Sox3-related",
          "SRXX3",
          "chromosome Xq26 Duplication syndrome",
          "chromosome Xq26 deletion syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010442"
    },
    {
      "id": 23681,
      "label": "46,XX sex reversal 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23987,
        29369
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0060489"
    },
    {
      "id": 23988,
      "label": "46,XX sex reversal 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        23987
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111761",
          "GARD:0026098",
          "MEDGEN:411324",
          "NCIT:C179867",
          "OMIM:400045",
          "UMLS:C2748895"
        ],
        "synonyms": [
          "ovotesticular DSD",
          "ovotesticular disorder of sex development",
          "46,XX SEX reversal 1",
          "46,XX Sex reversal type 1",
          "46,XX Sex reversal, SRY-positive",
          "46,XX gonadal dysgenesis, complete, SRY-positive",
          "46XX sex reversal 1, X-linked dominant",
          "SRXX1",
          "46,XX true hermaphroditism, SRY-positive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100250"
    }
  ],
  "roots": [
    {
      "id": 17857,
      "label": "46,XX disorder of sex development"
    }
  ]
}