{
    "disease_id": "DOID:0080195",
    "recommended_name": {
        "id": "DOID:0080195",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080195",
        "name": "Marinesco-Sjogren syndrome",
        "description": "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development."
    },
    "synonyms": [
        {
            "id": "DOID:0080195",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080195",
            "name": "hereditary oligophrenic cerebello-lental degeneration",
            "description": ""
        },
        {
            "id": "DOID:0080195",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080195",
            "name": "Garland-Moorhouse syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080195",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080195",
            "name": "Marinesco-Garland syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080195",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080195",
            "name": "Oligophrenic cerebellolenticular degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren syndrome",
            "description": "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development."
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "MSS",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Garland-Moorhouse syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Garland syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "hereditary oligophrenic cerebello-lental degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "oligophrenic cerebellolenticular degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren syndrome-myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren-Garland syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjgren syndrome",
            "description": ""
        },
        {
            "id": "MIM:248800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248800",
            "name": "Marinesco-Sjoegren syndrome",
            "description": "Marinesco-Sjoegren syndrome"
        }
    ]
}
