{
  "id": 4130,
  "label": "gonadal dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001967",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4278,
      "label": "hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4375
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1924",
          "ICD9:253.4",
          "MEDGEN:5711",
          "MESH:D007006",
          "NCIT:C9227",
          "SCTID:48130008",
          "UMLS:C0020619"
        ],
        "synonyms": [
          "gonadotropin deficiency",
          "hypogonadotropism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation."
      },
      "child_count": 6,
      "reference_id": "MONDO:0002146"
    }
  ],
  "children": [
    {
      "id": 7104,
      "label": "testicular dysgenesis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4130,
        4435
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0004893",
          "GARD:0024185",
          "MEDGEN:754060",
          "NANDO:2200383",
          "SCTID:445338005",
          "UMLS:C2919755"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005437"
    },
    {
      "id": 10538,
      "label": "46 XX gonadal dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4130,
        19578
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 22,
      "reference_id": "MONDO:0009299"
    },
    {
      "id": 11904,
      "label": "46,XY complete gonadal dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4130,
        20383,
        21518
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 36,
      "reference_id": "MONDO:0010765"
    },
    {
      "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": 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"
    }
  ],
  "roots": [
    {
      "id": 4278,
      "label": "hypogonadism"
    }
  ]
}