{
    "disease_id": "DOID:4795", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010099", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010099", 
            "name": "Tay-Sachs disease AB variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010099", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010099", 
            "name": "Tay-Sachs disease, variant AB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010099", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010099", 
            "name": "hexosaminidase activator deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010099", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010099", 
            "name": "GM2-gangliosidosis, AB variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010099", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010099", 
            "name": "Ab variant GM2-gangliosidosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010099", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010099", 
            "name": "GM2 activator deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010099", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010099", 
            "name": "Tay-Sachs disease, AB variant"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:4795", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:4795", 
            "name": "Tay-Sachs disease AB variant"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:4795", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:4795", 
            "name": "Tay-Sachs disease, variant AB"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:4795", 
        "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.", 
        "resource": "Disease Ontology", 
        "id": "DOID:4795", 
        "name": "GM2 gangliosidosis, AB variant"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/4795#disease-associations", 
            "id": "4795", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
