{
  "id": 17141,
  "label": "46,XY partial gonadal dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016674",
  "properties": {
    "xrefs": [
      "GARD:0017211",
      "MEDGEN:1388250",
      "Orphanet:251510",
      "SCTID:725045004",
      "UMLS:C4510744"
    ],
    "synonyms": [
      "46,XY PGD",
      "46,XY partial testicular dysgenesis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "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"
    }
  ],
  "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": 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": 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": 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": 15245,
      "label": "testicular anomalies with or without congenital heart disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        17141
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018360",
          "MEDGEN:816188",
          "OMIM:615542",
          "UMLS:C3809858"
        ],
        "synonyms": [
          "testicular anomalies with or without congenital heart disease",
          "TACHD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014239"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}