{
  "id": 4131,
  "label": "mixed gonadal dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001969",
  "properties": {
    "xrefs": [
      "DOID:14449",
      "GARD:0002539",
      "MEDGEN:6654",
      "MESH:D006060",
      "NANDO:2200388",
      "SCTID:83579008",
      "UMLS:C0018055"
    ],
    "synonyms": [
      "gonadal dysgenesis mixed"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19317,
      "label": "Turner syndrome"
    }
  ]
}