{
  "id": 10538,
  "label": "46 XX gonadal dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009299",
  "properties": {
    "xrefs": [
      "DOID:14450",
      "GARD:0005671",
      "MEDGEN:146899",
      "MESH:D023961",
      "NANDO:2200384",
      "NCIT:C120197",
      "OMIMPS:233300",
      "Orphanet:243",
      "SCTID:95198001",
      "UMLS:C0685837",
      "icd11.foundation:1742528605"
    ],
    "synonyms": [
      "46,XX complete gonadal dysgenesis",
      "46,XX gonadal dysgenesis",
      "46,XX ovarian dysgenesis",
      "46,XX pure gonadal dysgenesis",
      "FSH-RO",
      "XX female gonadal dysgenesis",
      "XX-GD",
      "follicular stimulating hormone-resistant ovaries",
      "hypergonadotropic ovarian dysgenesis",
      "XX gonadal dysgenesis",
      "ovarian dysgenesis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 4130,
      "label": "gonadal dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4278
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14447",
          "GARD:0002538",
          "ICD9:758.6",
          "MEDGEN:9075",
          "MESH:D006059",
          "NCIT:C61420",
          "SCTID:205681004",
          "UMLS:C0018051"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics."
      },
      "child_count": 5,
      "reference_id": "MONDO:0001967"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7067,
        16330,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019294",
          "MEDGEN:443920",
          "OMIMPS:311360",
          "Orphanet:95710",
          "UMLS:C2930861"
        ],
        "synonyms": [
          "hereditary primary ovarian failure",
          "inherited POI",
          "inherited premature ovarian failure",
          "inherited primary ovarian insufficiency",
          "non-acquired premature ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 164,
      "reference_id": "MONDO:0019852"
    }
  ],
  "children": [
    {
      "id": 11516,
      "label": "ovarian dysgenesis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080494",
          "DOID:0080861",
          "GARD:0018040",
          "MEDGEN:336903",
          "MESH:C564499",
          "OMIM:300510",
          "UMLS:C1845294"
        ],
        "synonyms": [
          "BMP15 primary ovarian failure",
          "ovarian dysgenesis 2",
          "ovarian dysgenesis type 2",
          "primary ovarian failure caused by mutation in BMP15",
          "ODG2",
          "ovarian dysgenesis, hypergonadotropic, X-linked",
          "ovarian failure, hypergonadotropic, due to ovarian dysgenesis",
          "premature ovarian failure 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010349"
    },
    {
      "id": 13774,
      "label": "SERKAL syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010302",
          "MEDGEN:394528",
          "MESH:C567517",
          "NCIT:C123726",
          "OMIM:611812",
          "Orphanet:139466",
          "SCTID:723720008",
          "UMLS:C2678492"
        ],
        "synonyms": [
          "46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs",
          "SERKAL syndrome",
          "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome",
          "46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs",
          "SERKAL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012734"
    },
    {
      "id": 14711,
      "label": "ovarian dysgenesis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080495",
          "GARD:0018041",
          "MEDGEN:482101",
          "OMIM:614324",
          "UMLS:C3280471"
        ],
        "synonyms": [
          "46 XX gonadal dysgenesis caused by mutation in PSMC3IP",
          "PSMC3IP 46 XX gonadal dysgenesis",
          "ovarian dysgenesis 3",
          "ovarian dysgenesis type 3",
          "ODG3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013689"
    },
    {
      "id": 20238,
      "label": "ovarian dysgenesis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080499",
          "GARD:0018043",
          "MEDGEN:1648458",
          "OMIM:618117",
          "UMLS:C4748263"
        ],
        "synonyms": [
          "ODG7",
          "OVARIAN DYSGENESIS 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020857"
    },
    {
      "id": 21419,
      "label": "ovarian dysgenesis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080493",
          "GARD:0018039",
          "MEDGEN:215397",
          "OMIM:233300",
          "UMLS:C0949595"
        ],
        "synonyms": [
          "ODG1",
          "ovarian dysgenesis 1",
          "XX gonadal dysgenesis",
          "XXGD",
          "gonadal dysgenesis, 20 type",
          "gonadal dysgenesis, XX type",
          "ovarian dysgenesis, hypergonadotropic, autosomal recessive",
          "ovarian dysgenesis, hypergonadotropic, with normal karyotype",
          "ovarian failure, hypergonadotropic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024463"
    },
    {
      "id": 21954,
      "label": "ovarian dysgenesis 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061013",
          "GARD:0025585",
          "MEDGEN:1794256",
          "OMIM:619665",
          "UMLS:C5562046"
        ],
        "synonyms": [
          "ODG9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030506"
    },
    {
      "id": 22033,
      "label": "ovarian dysgenesis 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061014",
          "GARD:0025628",
          "MEDGEN:1801078",
          "OMIM:619834",
          "UMLS:C5676966"
        ],
        "synonyms": [
          "ODG10",
          "ovarian dysgenesis 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030736"
    },
    {
      "id": 22277,
      "label": "ovarian dysgenesis 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080500",
          "GARD:0025708",
          "MEDGEN:1648455",
          "OMIM:618187",
          "UMLS:C4748626"
        ],
        "synonyms": [
          "ODG8",
          "OVARIAN DYSGENESIS 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032590"
    },
    {
      "id": 23577,
      "label": "ovarian dysgenesis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080497",
          "GARD:0025958",
          "MEDGEN:1627972",
          "OMIM:617690",
          "UMLS:C4540141"
        ],
        "synonyms": [
          "ovarian dysgenesis 5",
          "ODG5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054666"
    },
    {
      "id": 23648,
      "label": "ovarian dysgenesis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080498",
          "GARD:0018042",
          "MEDGEN:1648307",
          "OMIM:618078",
          "UMLS:C4748084"
        ],
        "synonyms": [
          "ovarian dysgenesis 6",
          "ODG6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054850"
    },
    {
      "id": 26083,
      "label": "ovarian dysgenesis 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027210",
          "MEDGEN:1856331",
          "OMIM:620897",
          "UMLS:C5935637"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971176"
    }
  ],
  "roots": [
    {
      "id": 4130,
      "label": "gonadal dysgenesis"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure"
    }
  ]
}