{
    "disease_id": "DOID:0081175",
    "recommended_name": {
        "id": "DOID:0081175",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081175",
        "name": "short stature, hearing loss, retinitis pigmentosa, and distinctive facies",
        "description": "A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0044634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044634",
            "name": "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044634",
            "name": "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044634",
            "name": "short stature, hearing loss, retinitis pigmentosa, and distinctive facies",
            "description": ""
        },
        {
            "id": "MIM:617763",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617763",
            "name": "Short stature, hearing loss, retinitis pigmentosa, and distinctive facies",
            "description": "Short stature, hearing loss, retinitis pigmentosa, and distinctive facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081175"
    ],
    "unlinked_id_list": []
}