{
  "id": 19317,
  "label": "Turner syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019499",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7067,
        16330,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019294",
          "MEDGEN:443920",
          "OMIMPS:311360",
          "Orphanet:95710",
          "UMLS:C2930861"
        ],
        "synonyms": [
          "hereditary primary ovarian failure",
          "inherited POI",
          "inherited premature ovarian failure",
          "inherited primary ovarian insufficiency",
          "non-acquired premature ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 164,
      "reference_id": "MONDO:0019852"
    }
  ],
  "children": [
    {
      "id": 4131,
      "label": "mixed gonadal dysgenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19317
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0001969"
    },
    {
      "id": 19925,
      "label": "monosomy X",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19317,
        20054,
        24425
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019676",
          "MEDGEN:116607",
          "NCIT:C36630",
          "Orphanet:99226",
          "SCTID:710008008",
          "UMLS:C0242526",
          "icd11.foundation:95979116"
        ],
        "synonyms": [
          "monosomy type X"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0020466"
    },
    {
      "id": 19930,
      "label": "Turner syndrome due to structural X chromosome anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19317
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019681",
          "MEDGEN:1842425",
          "Orphanet:99413",
          "UMLS:C5681631"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020472"
    }
  ],
  "roots": [
    {
      "id": 4130,
      "label": "gonadal dysgenesis"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18156,
      "label": "sex chromosome disorder of sex development"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure"
    }
  ]
}