{
  "id": 10539,
  "label": "Perrault syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009300",
  "properties": {
    "xrefs": [
      "GARD:0024656",
      "MEDGEN:1640257",
      "OMIM:233400",
      "Orphanet:642945",
      "UMLS:C4551721"
    ],
    "synonyms": [
      "HSD17B4 Perrault syndrome",
      "Perrault syndrome 1",
      "Perrault syndrome caused by mutation in HSD17B4",
      "Perrault syndrome type 1",
      "PRLTS1",
      "gonadal dysgenesis, 20 type, with deafness",
      "ovarian dysgenesis with sensorineural deafness"
    ],
    "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 HSD17B4 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"
    }
  ]
}