{
    "disease_id": "DOID:0112290",
    "recommended_name": {
        "id": "DOID:0112290",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112290",
        "name": "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis",
        "description": "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22."
    },
    "synonyms": [
        {
            "id": "DOID:0112290",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112290",
            "name": "SHILCA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0031007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031007",
            "name": "spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MONDO:0031007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031007",
            "name": "SHILCA",
            "description": ""
        },
        {
            "id": "MONDO:0031007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031007",
            "name": "SHILCA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0031007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031007",
            "name": "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis",
            "description": ""
        },
        {
            "id": "MIM:619260",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619260",
            "name": "Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis",
            "description": "Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis"
        }
    ]
}