{
  "id": 18156,
  "label": "sex chromosome disorder of sex development",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017975",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "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": 8268,
      "label": "Klinefelter syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18156,
        24425,
        24461
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1921",
          "EFO:1001006",
          "MEDGEN:44033",
          "MESH:D007713",
          "MedDRA:10023463",
          "NANDO:2200386",
          "NCIT:C34752",
          "SCTID:405769009",
          "UMLS:C0022735",
          "icd11.foundation:1937385304"
        ],
        "synonyms": [
          "47,XXY syndrome",
          "Klinefelter syndrome",
          "Klinefelter's syndrome",
          "Klinefelter's syndrome, XXY",
          "XXY syndrome",
          "XXY syndrome (Klinefelter syndrome)",
          "hypogonadotropic hypogonadism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006823"
    },
    {
      "id": 16004,
      "label": "48,XXYY syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        18156
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005677",
          "ICD9:758.81",
          "MEDGEN:422434",
          "MedDRA:10048230",
          "NCIT:C89801",
          "NORD:2038",
          "Orphanet:10",
          "SCTID:403760006",
          "UMLS:C2936741"
        ],
        "synonyms": [
          "48, XXYY Syndrome",
          "48, XXYY syndrome",
          "48,XXYY Klinefelter syndrome",
          "48,XXYY variant of Klinefelter's syndrome",
          "XXYY syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015028"
    },
    {
      "id": 16533,
      "label": "45,X/46,XY mixed gonadal dysgenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4130,
        18156
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080656",
          "GARD:0018747",
          "NANDO:2200388",
          "NCIT:C120199",
          "Orphanet:1772"
        ],
        "synonyms": [
          "45,X/46,XY MGD",
          "45,X/46,XY disorder of Sex development",
          "45,X/46,XY gonadal dysgenesis",
          "45,X0/46,XY MGD",
          "45,X0/46,XY mixed gonadal dysgenesis",
          "Mixed gonadal dysgenesis",
          "XY/X0"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015779"
    },
    {
      "id": 16681,
      "label": "tetragametic chimerism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18156
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020332",
          "MEDGEN:609542",
          "Orphanet:199310",
          "UMLS:C0432480"
        ],
        "synonyms": [
          "46,XX/46,XY chimerism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016045"
    },
    {
      "id": 19317,
      "label": "Turner syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4130,
        4370,
        18156,
        19578
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3491",
          "GARD:0007831",
          "ICD10CM:Q96.0",
          "ICD10WHO:Q96",
          "ICD9:758.7",
          "MEDGEN:21734",
          "MESH:D014424",
          "MedDRA:10045181",
          "NANDO:2200410",
          "NCIT:C26900",
          "NORD:1806",
          "Orphanet:881",
          "SCTID:38804009",
          "UMLS:C0041408",
          "icd11.foundation:1987089698"
        ],
        "synonyms": [
          "gonadal dysgenesis",
          "45,X gonadal dysgenesis",
          "45,X syndrome",
          "45,X/46,XX syndrome",
          "45,X0 syndrome",
          "45X syndrome",
          "karyotype 45, X",
          "monosomy X",
          "45, X syndrome",
          "Bonnevie-Ullrich syndrome",
          "Schereshevkii Turner syndrome",
          "Turner Varny syndrome",
          "Ullrich-Turner syndrome",
          "chromosome X monosomy X",
          "genital dwarfism",
          "genital dwarfism, Turner type",
          "gonadal dysgenesis (45,X)",
          "gonadal dysgenesis Turner type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019499"
    },
    {
      "id": 19648,
      "label": "48,XXXY syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        18156,
        21951,
        24425
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005676",
          "ICD9:758.81",
          "MEDGEN:452344",
          "MedDRA:10048228",
          "NCIT:C89799",
          "Orphanet:96263",
          "SCTID:78317008",
          "UMLS:C0265498"
        ],
        "synonyms": [
          "48, XXXY syndrome",
          "XXXY syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019928"
    },
    {
      "id": 19649,
      "label": "49,XXXXY syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        18156,
        24425,
        24481
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005679",
          "ICD9:758.81",
          "MEDGEN:75573",
          "NCIT:C185635",
          "Orphanet:96264",
          "SCTID:38847009",
          "UMLS:C0265499"
        ],
        "synonyms": [
          "49,XXXXY",
          "XXXXY syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019929"
    }
  ],
  "roots": [
    {
      "id": 4277,
      "label": "disorder of sexual differentiation"
    }
  ]
}