{
  "id": 11904,
  "label": "46,XY complete gonadal dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010765",
  "properties": {
    "xrefs": [
      "DOID:14448",
      "GARD:0005068",
      "MEDGEN:445380",
      "MESH:D006061",
      "NCIT:C120198",
      "NORD:1750",
      "OMIMPS:400044",
      "Orphanet:242",
      "SCTID:95218005",
      "UMLS:C2936694"
    ],
    "synonyms": [
      "46 XY gonadal dysgenesis",
      "46, XY CGD",
      "46, XY complete gonadal dysgenesis",
      "46, XY pure gonadal dysgenesis",
      "46,XY CGD",
      "46,XY SEX reversal",
      "46,XY gonadal dysgenesis",
      "46,XY pure gonadal dysgenesis",
      "Swyer syndrome",
      "gonadal dysgenesis, XY female type",
      "sex-reversing locus on X",
      "sex-reversing locus on X, formerly",
      "testis-determining Factor, X-chromosomal"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "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": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6777,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080326",
          "MEDGEN:183649",
          "MESH:D024741",
          "NCIT:C84773",
          "OMIMPS:192600",
          "Orphanet:155",
          "SCTID:471885006",
          "UMLS:C0949658",
          "icd11.foundation:1408928442"
        ],
        "synonyms": [
          "cardiomyopathy, familial hypertrophic",
          "familial hypertrophic cardiomyopathy",
          "familila or idiopathic hypertrophic obstructive cardiomyopathy",
          "hereditary hypertrophic cardiomyopathy",
          "hypertrophic familial cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."
      },
      "child_count": 80,
      "reference_id": "MONDO:0024573"
    }
  ],
  "children": [
    {
      "id": 9268,
      "label": "46,XY sex reversal 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904,
        17141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111771",
          "GARD:0015083",
          "MEDGEN:416704",
          "MESH:C567887",
          "NCIT:C132270",
          "OMIM:154230",
          "UMLS:C2752149"
        ],
        "synonyms": [
          "46,XY Sex reversal type 4",
          "46,XY sex reversal 4",
          "46XY sex reversal 4, Isolated cases",
          "46,XY SEX reversal 4",
          "46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion",
          "SRXY4",
          "chromosome 9P24.3 deletion syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Sex reversal in an individual associated with a 9p24.3 deletion."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007938"
    },
    {
      "id": 10540,
      "label": "46,XY sex reversal 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111774",
          "GARD:0015174",
          "MEDGEN:383876",
          "MESH:C565537",
          "OMIM:233420",
          "UMLS:C1856273"
        ],
        "synonyms": [
          "46,XY Sex reversal type 7",
          "46,XY sex reversal 7",
          "46XY sex reversal 7",
          "46,XY SEX reversal 7",
          "46,XY Sex reversal, partial or complete, Dhh-related",
          "46,XY gonadal dysgenesis, partial or complete, Dhh-related",
          "SRXY7",
          "gonadal dysgenesis, XY, Male-limited"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009301"
    },
    {
      "id": 11404,
      "label": "46,XY sex reversal 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904,
        17141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111777",
          "GARD:0009159",
          "MEDGEN:341190",
          "MESH:C535601",
          "NANDO:1200404",
          "OMIM:300018",
          "UMLS:C1848296"
        ],
        "synonyms": [
          "46,XY Sex reversal type 2",
          "46,XY sex reversal 2",
          "46,XY SEX reversal 2",
          "46,XY Sex reversal, Dax1-related",
          "SRXY2",
          "dosage-sensitive Sex reversal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010226"
    },
    {
      "id": 12851,
      "label": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904,
        19710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051055",
          "GARD:0017034",
          "MEDGEN:1727162",
          "MESH:C567773",
          "OMIM:607080",
          "Orphanet:168563",
          "UMLS:C5436061"
        ],
        "synonyms": [
          "46XY gonadal dysgenesis with minifascicular neuropathy",
          "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011766"
    },
    {
      "id": 14104,
      "label": "46,XY sex reversal 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904,
        17141,
        29369
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111772",
          "GARD:0015598",
          "MEDGEN:483746",
          "NANDO:1200405",
          "OMIM:612965",
          "UMLS:C3489793"
        ],
        "synonyms": [
          "46,XY Sex reversal type 3",
          "46,XY sex reversal 3",
          "46XY sex reversal 3",
          "46,XY SEX reversal 3",
          "46,XY Sex reversal, partial or complete, Nr5A1-related",
          "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure",
          "SRXY3",
          "Sex reversal, XY, with or without adrenal failure",
          "disorder of Sex development, 46,XY, Nr5A1-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013066"
    },
    {
      "id": 14158,
      "label": "46,XY sex reversal 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111776",
          "GARD:0015611",
          "MEDGEN:414349",
          "MESH:C567766",
          "OMIM:613080",
          "UMLS:C2751317"
        ],
        "synonyms": [
          "46,XY Sex reversal type 5",
          "46,XY sex reversal 5",
          "46XY sex reversal 5",
          "46,XY SEX reversal 5",
          "46,XY Sex reversal, Cbx2-related",
          "46,XY gonadal dysgenesis, complete, Cbx2-related",
          "SRXY5",
          "Sex reversal, XY, Cbx2-related",
          "disorder of Sex development, 46,XY, Cbx2-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013120"
    },
    {
      "id": 14442,
      "label": "46,XY sex reversal 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904,
        17141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111769",
          "GARD:0015703",
          "MEDGEN:462414",
          "OMIM:613762",
          "UMLS:C3151064"
        ],
        "synonyms": [
          "46,XY Sex reversal type 6",
          "46,XY sex reversal 6",
          "46XY sex reversal 6",
          "46,XY SEX reversal 6",
          "46,XY Sex reversal, partial or complete, Map3K1-related",
          "46,XY gonadal dysgenesis, partial or complete, Map3K1-related",
          "SRXY6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013410"
    },
    {
      "id": 14688,
      "label": "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111773",
          "GARD:0017752",
          "MEDGEN:333416",
          "MESH:C564109",
          "OMIM:614279",
          "Orphanet:443087",
          "SCTID:49013001",
          "UMLS:C1839840"
        ],
        "synonyms": [
          "46,XY sex reversal type 8",
          "46XY sex reversal 8",
          "46XY sex reversal 8, modifier of",
          "46,XY sex reversal 8",
          "SRXY8",
          "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013664"
    },
    {
      "id": 15479,
      "label": "46,XY sex reversal 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904,
        17141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111770",
          "GARD:0018361",
          "MEDGEN:863566",
          "OMIM:616067",
          "UMLS:C4015129"
        ],
        "synonyms": [
          "46,XY Sex reversal type 9",
          "46,XY sex reversal 9",
          "46XY sex reversal 9",
          "46,XY SEX reversal 9",
          "46,XY Sex reversal, Zfpm2-related",
          "SRXY9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014480"
    },
    {
      "id": 15630,
      "label": "46,XY sex reversal 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904,
        17141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111775",
          "GARD:0016109",
          "MEDGEN:897538",
          "OMIM:616425",
          "UMLS:C4225331"
        ],
        "synonyms": [
          "46,XY Sex reversal type 10",
          "46,XY sex reversal 10",
          "46XY sex reversal 10",
          "46,XY SEX reversal 10",
          "SRXY10",
          "chromosome 17Q24 deletion syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014634"
    },
    {
      "id": 20119,
      "label": "46,XY sex reversal 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111778",
          "GARD:0025219",
          "MEDGEN:412662",
          "NCIT:C128188",
          "OMIM:400044",
          "UMLS:C2748896"
        ],
        "synonyms": [
          "46,XY gonadal dysgenesis, complete, SRY-related",
          "46,XY sex reversal 1",
          "46,XY sex reversal type 1",
          "46,XY sex reversal, SRY-related",
          "46,XY true hermaphroditism, SRY-related",
          "46XY sex reversal 1, Y-linked",
          "SRXY1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020712"
    },
    {
      "id": 29398,
      "label": "46,XY sex reversal 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016552",
          "ICD9:752.89",
          "MEDGEN:78602",
          "MESH:C537770",
          "MedDRA:10002641",
          "OMIM:273250",
          "Orphanet:983",
          "SCTID:53599007",
          "UMLS:C0266427"
        ],
        "synonyms": [
          "46, XY sex reversal 11",
          "ETRS",
          "SRXY11",
          "TRS",
          "embryonic testicular regression syndrome",
          "testicular regression syndrome",
          "vanishing testes syndrome",
          "vanishing testis syndrome",
          "XY gonadal agenesis syndrome",
          "anorchia, familial",
          "testicular regression, embryonic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:8000015"
    }
  ],
  "roots": [
    {
      "id": 4130,
      "label": "gonadal dysgenesis"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy"
    }
  ]
}