{
  "id": 14615,
  "label": "Perrault syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013588",
  "properties": {
    "xrefs": [
      "GARD:0015760",
      "MEDGEN:814744",
      "OMIM:614129",
      "UMLS:C3808414"
    ],
    "synonyms": [
      "CLPP Perrault syndrome",
      "Perrault syndrome 3",
      "Perrault syndrome caused by mutation in CLPP",
      "Perrault syndrome type 3",
      "PRLTS3",
      "deafness, autosomal recessive 81",
      "deafness, autosomal recessive 81, formerly"
    ],
    "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 CLPP 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"
    }
  ]
}