{
  "id": 16533,
  "label": "45,X/46,XY mixed gonadal dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015779",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 18156,
      "label": "sex chromosome disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:423530",
          "MESH:D058533",
          "Orphanet:325546",
          "UMLS:C2936421"
        ],
        "synonyms": [
          "Sex chromosome DSD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism."
      },
      "child_count": 7,
      "reference_id": "MONDO:0017975"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4130,
      "label": "gonadal dysgenesis"
    },
    {
      "id": 18156,
      "label": "sex chromosome disorder of sex development"
    }
  ]
}