{
    "disease_id": "DOID:14744",
    "recommended_name": {
        "id": "DOID:14744",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14744",
        "name": "Partington syndrome",
        "description": "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria."
    },
    "synonyms": [
        {
            "id": "DOID:14744",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14744",
            "name": "X-linked Russell-Silver syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington syndrome",
            "description": "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person."
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "MRXS1",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "intellectual disability-dystonic movements-ataxia-seizures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "mental retardation, X-linked, syndromic 1",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "X-linked Russell-Silver syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "mental retardation, X-linked, with dystonic movements, ataxia, and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "intellectual disability, X-linked, syndromic 1",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "PRTS",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington X-linked mental retardation syndrome; PRTS",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "X-linked intellectual disability-dystonia-dysarthria syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "mental retardation, X-linked 36",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington-Mulley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington syndrome",
            "description": ""
        },
        {
            "id": "MIM:309510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309510",
            "name": "Partington syndrome",
            "description": "Partington syndrome"
        }
    ]
}