{
  "id": 4277,
  "label": "disorder of sexual differentiation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002145",
  "properties": {
    "xrefs": [
      "DOID:1923",
      "GTR:AN1172969",
      "MEDGEN:415936",
      "MESH:D012734",
      "MedDRA:10070597",
      "NANDO:2100140",
      "NCIT:C103186",
      "Orphanet:90771",
      "SCTID:39179006",
      "UMLS:C2930619"
    ],
    "synonyms": [
      "CARD",
      "DSD",
      "conditions affecting reproductive development",
      "differences of sex development",
      "disorder of sex development",
      "disorder of sex differentiation",
      "disorder of sexual differentiation",
      "disorders of sex development",
      "intersex",
      "intersex conditions",
      "sex differentiation disorder",
      "sexual differentiation disorder",
      "disorders of sex development (DSD)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A congenital disorder characterized by abnormalities in the development of the sexual characteristics."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 4375,
      "label": "gonadal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6772,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2277",
          "MEDGEN:9074",
          "MESH:D006058",
          "NCIT:C26786",
          "UMLS:C0018050"
        ],
        "synonyms": [
          "disease of gonad",
          "disease or disorder of gonad",
          "disorder of gonad",
          "disorder of gonads",
          "gonad disease",
          "gonad disease or disorder",
          "gonadal disorder",
          "gonadal disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the testis or the ovary."
      },
      "child_count": 12,
      "reference_id": "MONDO:0002259"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    }
  ],
  "children": [
    {
      "id": 3775,
      "label": "gynecomastia disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3351,
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12698",
          "HP:0000771",
          "MEDGEN:6694",
          "MESH:D006177",
          "NCIT:C3073",
          "SCTID:4754008",
          "UMLS:C0018418"
        ],
        "synonyms": [
          "hypertrophy of breast of male organism",
          "male organism hypertrophy of breast"
        ],
        "categories": [
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Development of breast tissue in males."
      },
      "child_count": 2,
      "reference_id": "MONDO:0001571"
    },
    {
      "id": 4801,
      "label": "true hermaphroditism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3763",
          "GARD:0023240",
          "MEDGEN:78595",
          "NCIT:C85207",
          "SCTID:237821001",
          "UMLS:C0266361"
        ],
        "synonyms": [
          "ovotestis",
          "true hermaphroditism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0002768"
    },
    {
      "id": 16840,
      "label": "46,XX ovotesticular disorder of sex development",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016585",
          "MEDGEN:1814438",
          "MESH:D050090",
          "NANDO:2200387",
          "NCIT:C127167",
          "Orphanet:2138",
          "SCTID:18978002",
          "UMLS:C5679613"
        ],
        "synonyms": [
          "46,XX ovotesticular DSD",
          "ovotesticular DSD",
          "ovotesticular differences of sex development",
          "ovotesticular disorders of sex development",
          "true hermaphroditism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016281"
    },
    {
      "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"
    },
    {
      "id": 18156,
      "label": "sex chromosome disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:423530",
          "MESH:D058533",
          "Orphanet:325546",
          "UMLS:C2936421"
        ],
        "synonyms": [
          "Sex chromosome DSD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism."
      },
      "child_count": 7,
      "reference_id": "MONDO:0017975"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008538",
          "MEDGEN:414114",
          "MESH:D058490",
          "NANDO:2200393",
          "NCIT:C127171",
          "Orphanet:98085",
          "SCTID:8234004",
          "UMLS:C2751824"
        ],
        "synonyms": [
          "46,XY DSD",
          "46,XY differences of Sex development",
          "46,XY disorders of Sex development",
          "46, XY DSD",
          "46, XY disorders of sexual development",
          "46, XY female",
          "XY female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Differences of sex development in individuals with 46,XY karyotype."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020040"
    },
    {
      "id": 21572,
      "label": "indeterminate sex and/or pseudohermaphroditism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q56",
          "ICD9:752.7",
          "MEDGEN:712820",
          "SCTID:268229003",
          "UMLS:C1290455"
        ],
        "synonyms": [
          "gynandrism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0024665"
    }
  ],
  "roots": [
    {
      "id": 4375,
      "label": "gonadal disorder"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    }
  ]
}