{
    "disease_id": "DOID:0050647",
    "recommended_name": {
        "id": "DOID:0050647",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050647",
        "name": "Arts syndrome",
        "description": "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050647",
            "name": "fatal X-linked ataxia with deafness and loss of vision",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050647",
            "name": "ARTS",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050647",
            "name": "Lethal ataxia with deafness and optic atrophy",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050647",
            "name": "MRXS18",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050647",
            "name": "MRXSARTS",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050647",
            "name": "syndromic X-linked mental retardation 18",
            "description": ""
        },
        {
            "id": "DOID:0050647",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050647",
            "name": "syndromic X-linked mental retardation Arts type",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "Arts syndrome",
            "description": "Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy."
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "mental retardation, X-linked, syndromic 18",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "ataxia, fatal X-linked, with deafness and loss of vision",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "mental retardation, X-linked, syndromic, Arts type",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "MRXSARTS",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "fatal X-linked ataxia with deafness and loss of vision",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "Arts syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "Arts syndrome; Arts",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "syndromic X-linked mental retardation 18",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "Arts",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "X-linked fatal ataxia with deafness and loss of vision",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "MRXS18",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "syndromic X-linked mental retardation Arts type",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "lethal ataxia with deafness and optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010533",
            "name": "lethal ataxia-deafness-optic atrophy",
            "description": ""
        },
        {
            "id": "MIM:301835",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301835",
            "name": "ARTS syndrome",
            "description": "ARTS syndrome"
        }
    ]
}