{
    "disease_id": "DOID:0060976",
    "recommended_name": {
        "id": "DOID:0060976",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060976",
        "name": "polycystic liver disease 3",
        "description": "A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0054743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054743",
            "name": "polycystic liver disease 3 with or without kidney cysts",
            "description": "Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts."
        },
        {
            "id": "MONDO:0054743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054743",
            "name": "polycystic liver disease 3 with or without kidney cysts",
            "description": ""
        },
        {
            "id": "MONDO:0054743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054743",
            "name": "PCLD3",
            "description": ""
        },
        {
            "id": "MIM:617874",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617874",
            "name": "Polycystic liver disease 3 with or without kidney cysts",
            "description": "Polycystic liver disease 3 with or without kidney cysts"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060976"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060976",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060976",
            "categories": []
        },
        {
            "id": "MONDO:0054743",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054743",
            "categories": []
        },
        {
            "id": "MIM:617874",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617874",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P8H8-1",
            "uniprot_ac": "Q6P8H8",
            "uniprot_id": "ALG8_MOUSE",
            "refseq_ac": "NP_950200",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.265",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 (alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg8",
                    "type": "recommended"
                },
                {
                    "name": "Alg8",
                    "type": "synonym"
                },
                {
                    "name": "Gm1089",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P8H8-1",
            "evidence": [
                {
                    "id": "0060976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BVK2-1",
            "uniprot_ac": "Q9BVK2",
            "uniprot_id": "ALG8_HUMAN",
            "refseq_ac": "NP_001007028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.265",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "HUSSY-02",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog",
                    "type": "synonym"
                },
                {
                    "name": "asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1, 3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG8",
                    "type": "recommended"
                },
                {
                    "name": "ALG8",
                    "type": "synonym"
                },
                {
                    "name": "CDG1H",
                    "type": "synonym"
                },
                {
                    "name": "HUSSY-02",
                    "type": "synonym"
                },
                {
                    "name": "PCLD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BVK2-1",
            "evidence": [
                {
                    "id": "617874",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617874"
                },
                {
                    "id": "0060976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060976"
                }
            ]
        },
        {
            "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": "617874",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617874"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40351-1",
            "uniprot_ac": "P40351",
            "uniprot_id": "ALG8_YEAST",
            "refseq_ac": "NP_014710",
            "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 pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.265",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 8",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-P-Glc:Glc1Man(9)GlcNAc(2)-PP-dolichol alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALG8",
                    "type": "recommended"
                },
                {
                    "name": "ALG8",
                    "type": "synonym"
                },
                {
                    "name": "YOR29-18",
                    "type": "synonym"
                }
            ],
            "record_id": "P40351-1",
            "evidence": [
                {
                    "id": "0060976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PT91-1",
            "uniprot_ac": "E9PT91",
            "uniprot_id": "E9PT91_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alg8",
                    "type": "recommended"
                }
            ],
            "record_id": "E9PT91-1",
            "evidence": [
                {
                    "id": "0060976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3V8-1",
            "uniprot_ac": "Q9W3V8",
            "uniprot_id": "ALG8_DROME",
            "refseq_ac": "NP_572355",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.265",
                    "type": "synonym"
                },
                {
                    "name": "Asparagine-linked glycosylation protein 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG4542-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Protein xiantuan",
                    "type": "synonym"
                },
                {
                    "name": "xiantuan",
                    "type": "synonym"
                },
                {
                    "name": "xit-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "xit",
                    "type": "recommended"
                },
                {
                    "name": "Alg8",
                    "type": "synonym"
                },
                {
                    "name": "CG4542",
                    "type": "synonym"
                },
                {
                    "name": "Dalg8",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4542",
                    "type": "synonym"
                },
                {
                    "name": "Xit",
                    "type": "synonym"
                },
                {
                    "name": "dAlg8",
                    "type": "synonym"
                },
                {
                    "name": "xit",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3V8-1",
            "evidence": [
                {
                    "id": "0060976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060976"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060976"
}