{
    "disease_id": "DOID:0050857",
    "recommended_name": {
        "id": "DOID:0050857",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050857",
        "name": "Perrault syndrome",
        "description": "A syndrome that is characterized by sensorineural hearing loss and ovarian failure."
    },
    "synonyms": [
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "Perrault syndrome 4",
            "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene."
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "Perrault syndrome caused by mutation in LARS2",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "Perrault syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "PRLTS4",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "Perrault syndrome 4; PRLTS4",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "Perrault syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014126",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014126",
            "name": "LARS2 Perrault syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013972",
            "name": "Perrault syndrome 2",
            "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene."
        },
        {
            "id": "MONDO:0013972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013972",
            "name": "PRLTS2",
            "description": ""
        },
        {
            "id": "MONDO:0013972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013972",
            "name": "Perrault syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013972",
            "name": "HARS2 Perrault syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013972",
            "name": "Perrault syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013972",
            "name": "Perrault syndrome 2; PRLTS2",
            "description": ""
        },
        {
            "id": "MONDO:0013972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013972",
            "name": "Perrault syndrome caused by mutation in HARS2",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "Perrault syndrome 1",
            "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene."
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "Perrault syndrome caused by mutation in HSD17B4",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "ovarian dysgenesis with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "Perrault syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "PRLTS1",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "gonadal dysgenesis, 20 type, with deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "Perrault syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "Perrault syndrome 1; PRLTS1",
            "description": ""
        },
        {
            "id": "MONDO:0009300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009300",
            "name": "HSD17B4 Perrault syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "Perrault syndrome 3",
            "description": "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene."
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "CLPP Perrault syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "deafness, autosomal recessive 81, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "Perrault syndrome caused by mutation in CLPP",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "deafness, autosomal recessive 81",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "Perrault syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "PRLTS3",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "Perrault syndrome 3; PRLTS3",
            "description": ""
        },
        {
            "id": "MONDO:0013588",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013588",
            "name": "Perrault syndrome 3",
            "description": ""
        },
        {
            "id": "MIM:615300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615300",
            "name": "Perrault syndrome 4",
            "description": "Perrault syndrome 4"
        },
        {
            "id": "MIM:614926",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614926",
            "name": "Perrault syndrome 2",
            "description": "Perrault syndrome 2"
        },
        {
            "id": "MIM:233400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233400",
            "name": "Perrault syndrome 1",
            "description": "Perrault syndrome 1"
        },
        {
            "id": "MIM:614129",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614129",
            "name": "Perrault syndrome 3",
            "description": "Perrault syndrome 3"
        }
    ]
}