{
    "disease_id": "DOID:0060246",
    "recommended_name": {
        "id": "DOID:0060246",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060246",
        "name": "MASA syndrome",
        "description": "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range."
    },
    "synonyms": [
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060246",
            "name": "CRASH syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060246",
            "name": "Gareis-Mason syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060246",
            "name": "L1 syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060246",
            "name": "SPG1",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060246",
            "name": "X-linked corpus callosum agenesis",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060246",
            "name": "X-linked spastic paraplegia 1",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060246",
            "name": "hereditary spastic paraplegia 1",
            "description": ""
        },
        {
            "id": "DOID:0060246",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060246",
            "name": "X-linked complicated hereditary spastic paraplegia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "MASA syndrome",
            "description": "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles."
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "Gareis-Mason syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "L1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "Clasped thumb and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "spastic paraplegia 1, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "crash syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "X-linked spastic paraplegia 1",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "spastic paraplegia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "SPG1",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "X-linked corpus callosum agenesis",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "mental retardation, aphasia, shuffling Gait, and adducted thumbs",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "spastic paraplegia 1",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "thumb congenital clasped with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "X-linked complicated hereditary spastic paraplegia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "MASA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "mental retardation aphasia shuffling Gait adducted thumbs (MASA)",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "adducted thumb with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "thumb, congenital Clasped, with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010559",
            "name": "hereditary spastic paraplegia 1",
            "description": ""
        },
        {
            "id": "MIM:303350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/303350",
            "name": "MASA syndrome",
            "description": "MASA syndrome"
        }
    ]
}