{
    "disease_id": "DOID:0112124",
    "recommended_name": {
        "id": "DOID:0112124",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112124",
        "name": "X-linked retinitis pigmentosa and sinorespiratory infections",
        "description": "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in RPGR on chromosome Xp11.4."
    },
    "synonyms": [
        {
            "id": "DOID:0112124",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112124",
            "name": "primary ciliary dyskinesia-retinitis pigmentosa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010330",
            "name": "primary ciliary dyskinesia-retinitis pigmentosa syndrome",
            "description": "Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss."
        },
        {
            "id": "MONDO:0010330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010330",
            "name": "retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness",
            "description": ""
        },
        {
            "id": "MIM:300455",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300455",
            "name": "Retinitis pigmentosa and sinorespiratory infections with or without deafness",
            "description": "Retinitis pigmentosa and sinorespiratory infections with or without deafness"
        }
    ]
}