{
    "disease_id": "DOID:0060952",
    "recommended_name": {
        "id": "DOID:0060952",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060952",
        "name": "polycystic kidney disease 7",
        "description": "A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0031062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031062",
            "name": "polycystic kidney disease 7",
            "description": ""
        },
        {
            "id": "MONDO:0031062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031062",
            "name": "PKD7",
            "description": ""
        },
        {
            "id": "MONDO:0031062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031062",
            "name": "polycystic kidney disease 7",
            "description": ""
        },
        {
            "id": "MIM:620056",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620056",
            "name": "Polycystic kidney disease 7",
            "description": "Polycystic kidney disease 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060952"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060952",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060952",
            "categories": []
        },
        {
            "id": "MONDO:0031062",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031062",
            "categories": []
        },
        {
            "id": "MIM:620056",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620056",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NAE9-1",
            "uniprot_ac": "A0A8M1NAE9",
            "uniprot_id": "A0A8M1NAE9_DANRE",
            "refseq_ac": "NP_001038819",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-phosphate beta-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.117",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 5 (dolichyl-phosphate beta-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate beta-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alg5",
                    "type": "recommended"
                },
                {
                    "name": "alg5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk42e01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153378",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NAE9-1",
            "evidence": [
                {
                    "id": "0060952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DB25-1",
            "uniprot_ac": "Q9DB25",
            "uniprot_id": "ALG5_MOUSE",
            "refseq_ac": "NP_079718",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-phosphate beta-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.117",
                    "type": "synonym"
                },
                {
                    "name": "Alg5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DolP-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 5 (dolichyl-phosphate beta-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dolP-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate beta-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg5",
                    "type": "recommended"
                },
                {
                    "name": "1500026A19Rik",
                    "type": "synonym"
                },
                {
                    "name": "2600005J22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Alg5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DB25-1",
            "evidence": [
                {
                    "id": "0060952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y673-1",
            "uniprot_ac": "Q9Y673",
            "uniprot_id": "ALG5_HUMAN",
            "refseq_ac": "NP_001135836",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-phosphate beta-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.117",
                    "type": "synonym"
                },
                {
                    "name": "Alg5, S. cerevisiae, homolog of",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DolP-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dolP-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl phosphate glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate beta-glucosyltransferase isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG5",
                    "type": "recommended"
                },
                {
                    "name": "ALG5",
                    "type": "synonym"
                },
                {
                    "name": "HSPC149",
                    "type": "synonym"
                },
                {
                    "name": "PKD7",
                    "type": "synonym"
                },
                {
                    "name": "bA421P11.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y673-1",
            "evidence": [
                {
                    "id": "620056",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620056"
                },
                {
                    "id": "0060952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40350-1",
            "uniprot_ac": "P40350",
            "uniprot_id": "ALG5_YEAST",
            "refseq_ac": "NP_015097",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-phosphate beta-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.117",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 5",
                    "type": "synonym"
                },
                {
                    "name": "DolP-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate beta-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG5",
                    "type": "recommended"
                },
                {
                    "name": "ALG5",
                    "type": "synonym"
                },
                {
                    "name": "P1437",
                    "type": "synonym"
                }
            ],
            "record_id": "P40350-1",
            "evidence": [
                {
                    "id": "0060952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLQ1-1",
            "uniprot_ac": "Q9VLQ1",
            "uniprot_id": "ALG5_DROME",
            "refseq_ac": "NP_609202",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-phosphate beta-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.117",
                    "type": "synonym"
                },
                {
                    "name": "CG7870-PA",
                    "type": "synonym"
                },
                {
                    "name": "Wollknaeuel",
                    "type": "synonym"
                },
                {
                    "name": "wol-PA",
                    "type": "synonym"
                },
                {
                    "name": "wollknaeuel",
                    "type": "synonym"
                },
                {
                    "name": "wollknauel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wol",
                    "type": "recommended"
                },
                {
                    "name": "ALG5",
                    "type": "synonym"
                },
                {
                    "name": "Alg5",
                    "type": "synonym"
                },
                {
                    "name": "CG7870",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7870",
                    "type": "synonym"
                },
                {
                    "name": "Wol",
                    "type": "synonym"
                },
                {
                    "name": "alg5",
                    "type": "synonym"
                },
                {
                    "name": "dAlg5",
                    "type": "synonym"
                },
                {
                    "name": "wol",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLQ1-1",
            "evidence": [
                {
                    "id": "0060952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060952"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060952"
}