{
    "disease_id": "DOID:0050461",
    "recommended_name": {
        "id": "DOID:0050461",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0050461",
            "name": "aspartylglycosaminuria",
            "description": ""
        },
        {
            "id": "DOID:0050461",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050461",
            "name": "aspartylglucosaminidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050461",
            "resource": "Disease Ontology",
            "url": "https://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": "Aspartylglycosaminuria",
            "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": "aspartylglucosaminuria",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "aspartylglycosaminuria",
            "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": "AGU",
            "description": ""
        },
        {
            "id": "MONDO:0008830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "name": "Aspartylglucosamidase (AGA) deficiency",
            "description": ""
        },
        {
            "id": "MIM:208400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208400",
            "name": "Aspartylglucosaminuria",
            "description": "Aspartylglucosaminuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050461"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050461",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050461",
            "categories": []
        },
        {
            "id": "MONDO:0008830",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008830",
            "categories": []
        },
        {
            "id": "MIM:208400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q64191-1",
            "uniprot_ac": "Q64191",
            "uniprot_id": "ASPG_MOUSE",
            "refseq_ac": "NP_001005847",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.26",
                    "type": "synonym"
                },
                {
                    "name": "AGA",
                    "type": "synonym"
                },
                {
                    "name": "Aspartylglucosaminidase",
                    "type": "synonym"
                },
                {
                    "name": "Glycosylasparaginase",
                    "type": "synonym"
                },
                {
                    "name": "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase",
                    "type": "synonym"
                },
                {
                    "name": "glycosylasparaginase",
                    "type": "synonym"
                },
                {
                    "name": "n(4)-(beta-N-acetylglucosaminyl)-L-asparaginase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aga",
                    "type": "recommended"
                },
                {
                    "name": "Aga",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64191-1",
            "evidence": [
                {
                    "id": "0050461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20933-1",
            "uniprot_ac": "P20933",
            "uniprot_id": "ASPG_HUMAN",
            "refseq_ac": "NP_000018",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.26",
                    "type": "synonym"
                },
                {
                    "name": "Aspartylglucosaminidase",
                    "type": "synonym"
                },
                {
                    "name": "Glycosylasparaginase",
                    "type": "synonym"
                },
                {
                    "name": "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase",
                    "type": "synonym"
                },
                {
                    "name": "N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase",
                    "type": "synonym"
                },
                {
                    "name": "aspartylglucosylamine deaspartylase",
                    "type": "synonym"
                },
                {
                    "name": "glycosylasparaginase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGA",
                    "type": "recommended"
                },
                {
                    "name": "AGA",
                    "type": "synonym"
                },
                {
                    "name": "AGU",
                    "type": "synonym"
                },
                {
                    "name": "ASRG",
                    "type": "synonym"
                },
                {
                    "name": "GA",
                    "type": "synonym"
                }
            ],
            "record_id": "P20933-1",
            "evidence": [
                {
                    "id": "0008830",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0008830"
                },
                {
                    "id": "208400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/208400"
                },
                {
                    "id": "0050461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30919-1",
            "uniprot_ac": "P30919",
            "uniprot_id": "ASPG_RAT",
            "refseq_ac": "NP_001026811",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N(4)-(Beta-N-acetylglucosaminyl)-L-asparaginase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.26",
                    "type": "synonym"
                },
                {
                    "name": "AGA",
                    "type": "synonym"
                },
                {
                    "name": "Aspartylglucosaminidase",
                    "type": "synonym"
                },
                {
                    "name": "Glycosylasparaginase",
                    "type": "synonym"
                },
                {
                    "name": "N(4)-(Beta-N-acetylglucosaminyl)-L-asparaginase precursor",
                    "type": "synonym"
                },
                {
                    "name": "N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase",
                    "type": "synonym"
                },
                {
                    "name": "glycosylasparaginase",
                    "type": "synonym"
                },
                {
                    "name": "n(4)-(Beta-N-acetylglucosaminyl)-L-asparaginase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aga",
                    "type": "recommended"
                },
                {
                    "name": "Aga",
                    "type": "synonym"
                }
            ],
            "record_id": "P30919-1",
            "evidence": [
                {
                    "id": "0050461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZBI7-1",
            "uniprot_ac": "A1ZBI7",
            "uniprot_id": "A1ZBI7_DROME",
            "refseq_ac": "NP_611404",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10474-PA",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10474",
                    "type": "recommended"
                },
                {
                    "name": "CG10474",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10474",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10474",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZBI7-1",
            "evidence": [
                {
                    "id": "0050461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2C3-1",
            "uniprot_ac": "Q9W2C3",
            "uniprot_id": "ASPG2_DROME",
            "refseq_ac": "NP_611615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-asparaginase-like protein CG4372",
                    "type": "recommended"
                },
                {
                    "name": "CG4372-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG4372",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4372",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2C3-1",
            "evidence": [
                {
                    "id": "0050461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MR45-1",
            "uniprot_ac": "Q8MR45",
            "uniprot_id": "ASPG1_DROME",
            "refseq_ac": "NP_610504",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase CG1827",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.26",
                    "type": "synonym"
                },
                {
                    "name": "AGA",
                    "type": "synonym"
                },
                {
                    "name": "Aspartylglucosaminidase",
                    "type": "synonym"
                },
                {
                    "name": "CG1827-PD",
                    "type": "synonym"
                },
                {
                    "name": "Glycosylasparaginase",
                    "type": "synonym"
                },
                {
                    "name": "N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG1827",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1827",
                    "type": "synonym"
                },
                {
                    "name": "cg1827",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MR45-1",
            "evidence": [
                {
                    "id": "0050461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050461"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050461"
}