{
    "disease_id": "DOID:0110860",
    "recommended_name": {
        "id": "DOID:0110860",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110860",
        "name": "polycystic kidney disease 3",
        "description": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110860",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110860",
            "name": "Polycystic Kidney Disease, Adult, Type III",
            "description": ""
        },
        {
            "id": "DOID:0110860",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110860",
            "name": "APKD3",
            "description": ""
        },
        {
            "id": "DOID:0110860",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110860",
            "name": "PKD3",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "polycystic kidney disease 3 with or without polycystic liver disease",
            "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene."
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "APKD3",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "Apkd3",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "GANAB autosomal dominant polycystic kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "PKD3",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "Pkd3",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "autosomal dominant polycystic kidney disease caused by mutation in GANAB",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "polycystic kidney disease 3 with or without polycystic liver disease",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "polycystic kidney disease 3, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "polycystic kidney disease type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "polycystic kidney disease, adult, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "name": "polycystic kidney disease, type 3",
            "description": ""
        },
        {
            "id": "MIM:600666",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600666",
            "name": "Polycystic kidney disease 3 with or without polycystic liver disease",
            "description": "Polycystic kidney disease 3 with or without polycystic liver disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110860"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110860",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110860",
            "categories": []
        },
        {
            "id": "MONDO:0010916",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010916",
            "categories": []
        },
        {
            "id": "MIM:600666",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600666",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "F1Q6Z9",
            "uniprot_id": "F1Q6Z9_DANRE",
            "refseq_ac": "XP_009289535",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutral alpha-glucosidase AB",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.207",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glucosidase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "neutral alpha-glucosidase AB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ganabb",
                    "type": "recommended"
                },
                {
                    "name": "ganabb",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110860",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110860"
                }
            ]
        },
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            "uniprot_ac": "A0AC58JGY4",
            "uniprot_id": "A0AC58JGY4_DANRE",
            "refseq_ac": "XP_073805737",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Neutral alpha-glucosidase AB",
                    "type": "recommended"
                },
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                    "name": "3.2.1.207",
                    "type": "synonym"
                },
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                    "name": "Alpha-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glucosidase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ganaba",
                    "type": "recommended"
                },
                {
                    "name": "ganaba",
                    "type": "synonym"
                },
                {
                    "name": "zgc:171967",
                    "type": "synonym"
                }
            ],
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                    "id": "0110860",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110860"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BHN3-1",
            "uniprot_ac": "Q8BHN3",
            "uniprot_id": "GANAB_MOUSE",
            "refseq_ac": "NP_001280550",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutral alpha-glucosidase AB",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.207",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glucosidase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "carbohydrate processing enzyme of the endoplasmic reticulum",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase II alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "glucosidase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "neutral alpha-glucosidase AB isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neutral alpha-glucosidase AB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ganab",
                    "type": "recommended"
                },
                {
                    "name": "G2an",
                    "type": "synonym"
                },
                {
                    "name": "Ganab",
                    "type": "synonym"
                },
                {
                    "name": "GluII",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0088",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0088",
                    "type": "synonym"
                }
            ],
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                    "id": "0110860",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110860"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14697-1",
            "uniprot_ac": "Q14697",
            "uniprot_id": "GANAB_HUMAN",
            "refseq_ac": "NP_001265121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutral alpha-glucosidase AB",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.207",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glucosidase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "mannosyl-oligosaccharide alpha-1,3-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "neutral alpha-glucosidase AB isoform 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GANAB",
                    "type": "recommended"
                },
                {
                    "name": "G2AN",
                    "type": "synonym"
                },
                {
                    "name": "GANAB",
                    "type": "synonym"
                },
                {
                    "name": "GIIA",
                    "type": "synonym"
                },
                {
                    "name": "GIIalpha",
                    "type": "synonym"
                },
                {
                    "name": "GLUII",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0088",
                    "type": "synonym"
                },
                {
                    "name": "PKD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14697-1",
            "evidence": [
                {
                    "id": "0010916",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010916"
                },
                {
                    "id": "600666",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600666"
                },
                {
                    "id": "0110860",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110860"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38138-1",
            "uniprot_ac": "P38138",
            "uniprot_id": "GLU2A_YEAST",
            "refseq_ac": "NP_009788",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosidase 2 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.207",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-glucosidase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Glucosidase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Reversal of TOR2 lethality protein 2",
                    "type": "synonym"
                },
                {
                    "name": "glucan 1,3-alpha-glucosidase ROT2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ROT2",
                    "type": "recommended"
                },
                {
                    "name": "GLS2",
                    "type": "synonym"
                },
                {
                    "name": "ROT2",
                    "type": "synonym"
                },
                {
                    "name": "YBR1526",
                    "type": "synonym"
                }
            ],
            "record_id": "P38138-1",
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                {
                    "id": "0110860",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110860"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZAN3-1",
            "uniprot_ac": "D3ZAN3",
            "uniprot_id": "D3ZAN3_RAT",
            "refseq_ac": "XP_063142985",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutral alpha-glucosidase AB",
                    "type": "recommended"
                },
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                    "name": "3.2.1.207",
                    "type": "synonym"
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                {
                    "name": "Alpha-glucosidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glucosidase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "neutral alpha-glucosidase AB isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ganab",
                    "type": "recommended"
                },
                {
                    "name": "G2an",
                    "type": "synonym"
                },
                {
                    "name": "Ganab",
                    "type": "synonym"
                }
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            "record_id": "D3ZAN3-1",
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                    "id": "0110860",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110860"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110860"
}
