{
  "id": 17631,
  "label": "Perrault syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017312",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "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": 10539,
      "label": "Perrault syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17631
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009300"
    },
    {
      "id": 14615,
      "label": "Perrault syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17631
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013588"
    },
    {
      "id": 14982,
      "label": "Perrault syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17631
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061117",
          "GARD:0015882",
          "MEDGEN:767019",
          "OMIM:614926",
          "Orphanet:642976",
          "UMLS:C3554105"
        ],
        "synonyms": [
          "HARS2 Perrault syndrome",
          "Perrault syndrome 2",
          "Perrault syndrome caused by mutation in HARS2",
          "Perrault syndrome type 2",
          "PRLTS2"
        ],
        "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 HARS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013972"
    },
    {
      "id": 15134,
      "label": "Perrault syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17631
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015943",
          "MEDGEN:815435",
          "OMIM:615300",
          "UMLS:C3809105"
        ],
        "synonyms": [
          "LARS2 Perrault syndrome",
          "Perrault syndrome 4",
          "Perrault syndrome caused by mutation in LARS2",
          "Perrault syndrome type 4",
          "PRLTS4"
        ],
        "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 LARS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014126"
    },
    {
      "id": 15503,
      "label": "Perrault syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17631
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014504"
    },
    {
      "id": 22610,
      "label": "Perrault syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17631
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080256",
          "GARD:0016237",
          "MEDGEN:1391447",
          "OMIM:617565",
          "UMLS:C4479656"
        ],
        "synonyms": [
          "Perrault syndrome 6",
          "PRLTS6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033047"
    },
    {
      "id": 26201,
      "label": "Perrault syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17631
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061073",
          "GARD:0027436",
          "MEDGEN:1876467",
          "OMIM:621101",
          "UMLS:C6012699"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976232"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 19578,
      "label": "inherited primary ovarian failure"
    }
  ]
}