{
  "id": 17857,
  "label": "46,XX disorder of sex development",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017576",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4277,
      "label": "disorder of sexual differentiation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4375,
        19507
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 14,
      "reference_id": "MONDO:0002145"
    }
  ],
  "children": [
    {
      "id": 11118,
      "label": "46,XX disorder of sex development-skeletal anomalies syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17857
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016617",
          "MEDGEN:341514",
          "MESH:C564869",
          "OMIM:264270",
          "Orphanet:2975",
          "UMLS:C1849696"
        ],
        "synonyms": [
          "female pseudohermaphroditism-skeletal anomalies syndrome",
          "pseudohermaphroditism, female, with skeletal anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009915"
    },
    {
      "id": 13578,
      "label": "palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17857,
        17917
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016733",
          "MEDGEN:461281",
          "MESH:C567165",
          "OMIM:610644",
          "Orphanet:85112",
          "UMLS:C3149931"
        ],
        "synonyms": [
          "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal",
          "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome",
          "palmoplantar hyperkeratosis and true hermaphroditism",
          "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012530"
    },
    {
      "id": 17854,
      "label": "46,XX disorder of sex development-anorectal anomalies syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        17857
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018782",
          "MEDGEN:1382292",
          "Orphanet:2973",
          "UMLS:C4518078"
        ],
        "synonyms": [
          "female pseudohermaphroditism-anorectal anomalies syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017573"
    },
    {
      "id": 23136,
      "label": "Michels Caskey syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17857
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003590",
          "MEDGEN:419102",
          "MESH:C537576",
          "UMLS:C2931537"
        ],
        "synonyms": [
          "Mullerian aplasia with hypoplastic thumbs",
          "Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043131"
    },
    {
      "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": 24970,
      "label": "46,XX true hermaphroditism, SRY-positive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17857
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026536"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800381"
    }
  ],
  "roots": [
    {
      "id": 4277,
      "label": "disorder of sexual differentiation"
    }
  ]
}