{
    "disease_id": "DOID:0050461",
    "recommended_name": {
        "id": "DOID:0050461",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050461",
        "name": "aspartylglucosaminuria",
        "description": "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins."
    },
    "synonyms": [
        {
            "id": "DOID:0050461",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050461",
            "name": "aspartylglycosaminuria",
            "description": ""
        },
        {
            "id": "DOID:0050461",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050461",
            "name": "aspartylglucosaminidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050461",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050461",
            "name": "glycosylasparaginase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "aspartylglucosaminuria",
            "description": "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)."
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "Aga deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "AGU",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "glycosylasparaginase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "Glycoasparaginase",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "aspartylglucosaminuria",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "aspartylglucosaminuria; AGU",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "aspartylglucosaminidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "Aspartylglucosamidase (AGA) deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "aspartylglycosaminuria",
            "description": ""
        },
        {
            "id": "MIM:208400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208400",
            "name": "Aspartylglucosaminuria",
            "description": "Aspartylglucosaminuria"
        }
    ]
}