{
  "id": 15503,
  "label": "Perrault syndrome 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014504",
  "properties": {
    "xrefs": [
      "GARD:0016062",
      "MEDGEN:863744",
      "OMIM:616138",
      "UMLS:C4015307"
    ],
    "synonyms": [
      "Perrault syndrome 5",
      "Perrault syndrome caused by mutation in TWNK",
      "Perrault syndrome type 5",
      "TWNK Perrault syndrome",
      "PRLTS5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17631,
      "label": "Perrault syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16918,
        19578
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050857",
          "GARD:0002542",
          "MEDGEN:151934",
          "NORD:2031",
          "OMIMPS:233400",
          "Orphanet:2855",
          "SCTID:93466004",
          "UMLS:C0685838",
          "icd11.foundation:256968598"
        ],
        "synonyms": [
          "Perrault syndrome",
          "XX gonodal dysgenesis-deafness syndrome",
          "gonadal dysgenesis, XX type, with deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit."
      },
      "child_count": 21,
      "reference_id": "MONDO:0017312"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17631,
      "label": "Perrault syndrome"
    }
  ]
}