{
    "disease_id": "DOID:0111063",
    "recommended_name": {
        "id": "DOID:0111063",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111063",
        "name": "hyperphosphatemic familial tumoral calcinosis",
        "description": "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene."
    },
    "synonyms": [
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "HFTC",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "PHPTC",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "cortical hyperostosis with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "familial Teutschlaender disease",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "hypercalcemic tumoral calcinosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "hyperostosis with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "hyperphosphatemia hyperostosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "hyperphosphatemia hyperostosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "hyperphosphatemia tumoral calcinosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "lipocalcinogranulomatosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "morbus Teutschlaender",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "primary hyperphosphatemic tumoral calcinosis",
            "description": ""
        },
        {
            "id": "DOID:0111063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "name": "tumoral calcinosis with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "tumoral calcinosis, hyperphosphatemic, familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "HFTC",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "HFTC1",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "Morbus Teutschlaender",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "Teutschlaender disease, familial",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "calcinosis, tumoral, with hyperphosphatemia",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "hyperostosis-hyperphosphatemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "tumoral calcinosis, Hyperphosphatemic, familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "tumoral calcinosis, hyperphosphatemic, familial",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "tumoral calcinosis, hyperphosphatemic, familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0100252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "name": "tumoral calcinosis, primary Hyperphosphatemic",
            "description": ""
        },
        {
            "id": "MIM:211900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211900",
            "name": "Tumoral calcinosis, hyperphosphatemic, familial, 1",
            "description": "Tumoral calcinosis, hyperphosphatemic, familial, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111063"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111063",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111063",
            "categories": []
        },
        {
            "id": "MONDO:0100252",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100252",
            "categories": []
        },
        {
            "id": "MIM:211900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/211900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q14435-1",
            "uniprot_ac": "Q14435",
            "uniprot_id": "GALT3_HUMAN",
            "refseq_ac": "NP_004473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polypeptide N-acetylgalactosaminyltransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.41",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc transferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T3",
                    "type": "synonym"
                },
                {
                    "name": "Polypeptide GalNAc transferase 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein-UDP acetylgalactosaminyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide GalNAc transferase 3",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide GalNAc-transferase T3",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide N-acetylgalactosaminyltransferase 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pp-GaNTase 3",
                    "type": "synonym"
                },
                {
                    "name": "protein-UDP acetylgalactosaminyltransferase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GALNT3",
                    "type": "recommended"
                },
                {
                    "name": "GALNT3",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T3",
                    "type": "synonym"
                },
                {
                    "name": "HFTC1",
                    "type": "synonym"
                },
                {
                    "name": "HFTC",
                    "type": "synonym"
                },
                {
                    "name": "HHS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14435-1",
            "evidence": [
                {
                    "id": "2591",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/2591#disease"
                },
                {
                    "id": "211900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/211900"
                },
                {
                    "id": "GALNT3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GALNT3/#!details"
                },
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BC86-1",
            "uniprot_ac": "A0A8M2BC86",
            "uniprot_id": "A0A8M2BC86_DANRE",
            "refseq_ac": "XP_005164965",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgin subfamily B member 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "golgin subfamily B member 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "golgb1",
                    "type": "recommended"
                },
                {
                    "name": "golgb1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BC86-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58GMY9-1",
            "uniprot_ac": "A0AC58GMY9",
            "uniprot_id": "A0AC58GMY9_DANRE",
            "refseq_ac": "XP_073771111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Klotho isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "klotho isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kl",
                    "type": "recommended"
                },
                {
                    "name": "kl",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GMY9-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35082-1",
            "uniprot_ac": "O35082",
            "uniprot_id": "KLOT_MOUSE",
            "refseq_ac": "NP_038851",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Klotho",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.31",
                    "type": "synonym"
                },
                {
                    "name": "klotho precursor",
                    "type": "synonym"
                },
                {
                    "name": "secreted form of Klotho protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kl",
                    "type": "recommended"
                },
                {
                    "name": "Kl",
                    "type": "synonym"
                },
                {
                    "name": "alpha-kl",
                    "type": "synonym"
                }
            ],
            "record_id": "O35082-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70419-1",
            "uniprot_ac": "P70419",
            "uniprot_id": "GALT3_MOUSE",
            "refseq_ac": "NP_056551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polypeptide N-acetylgalactosaminyltransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.41",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc-T3",
                    "type": "synonym"
                },
                {
                    "name": "Polypeptide GalNAc transferase 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein-UDP acetylgalactosaminyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "galNAc-T3",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide GalNAc transferase 3",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide N-acetylgalactosaminyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "pp-GaNTase 3",
                    "type": "synonym"
                },
                {
                    "name": "ppGaNTase-T3",
                    "type": "synonym"
                },
                {
                    "name": "protein-UDP acetylgalactosaminyltransferase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galnt3",
                    "type": "recommended"
                },
                {
                    "name": "Galnt3",
                    "type": "synonym"
                }
            ],
            "record_id": "P70419-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PVZ8-1",
            "uniprot_ac": "E9PVZ8",
            "uniprot_id": "E9PVZ8_MOUSE",
            "refseq_ac": "NP_084311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgin B1",
                    "type": "synonym"
                },
                {
                    "name": "giantin",
                    "type": "synonym"
                },
                {
                    "name": "golgi autoantigen, golgin subfamily b, macrogolgin 1",
                    "type": "synonym"
                },
                {
                    "name": "golgin subfamily B member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Golgb1",
                    "type": "recommended"
                },
                {
                    "name": "4930428L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "628101",
                    "type": "synonym"
                },
                {
                    "name": "6330407A06Rik",
                    "type": "synonym"
                },
                {
                    "name": "C130074L01Rik",
                    "type": "synonym"
                },
                {
                    "name": "F730017E11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm6840",
                    "type": "synonym"
                },
                {
                    "name": "Golgb1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4151",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PVZ8-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6A8-1",
            "uniprot_ac": "G3V6A8",
            "uniprot_id": "G3V6A8_RAT",
            "refseq_ac": "NP_001424645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgin B1",
                    "type": "synonym"
                },
                {
                    "name": "Golgin subfamily B member 1",
                    "type": "synonym"
                },
                {
                    "name": "golgi autoantigen, golgin subfamily b, macrogolgin 1",
                    "type": "synonym"
                },
                {
                    "name": "golgi-associated protein GCP360",
                    "type": "synonym"
                },
                {
                    "name": "golgin B1, golgi integral membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "golgin subfamily B member 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Golgb1",
                    "type": "recommended"
                },
                {
                    "name": "Golgb1",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6A8-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2Y9-1",
            "uniprot_ac": "Q9Z2Y9",
            "uniprot_id": "KLOT_RAT",
            "refseq_ac": "NP_112626",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Klotho",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.31",
                    "type": "synonym"
                },
                {
                    "name": "klotho precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kl",
                    "type": "recommended"
                },
                {
                    "name": "Kl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2Y9-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV98-1",
            "uniprot_ac": "Q9VV98",
            "uniprot_id": "Q9VV98_DROME",
            "refseq_ac": "NP_648918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic beta-glucosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.21",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.46",
                    "type": "synonym"
                },
                {
                    "name": "CG9701-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9701",
                    "type": "recommended"
                },
                {
                    "name": "CG9701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9701",
                    "type": "synonym"
                },
                {
                    "name": "klotho",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV98-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MRC9-1",
            "uniprot_ac": "Q8MRC9",
            "uniprot_id": "GALT9_DROME",
            "refseq_ac": "NP_001097341",
            "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 polypeptide N-acetylgalactosaminyltransferase 9",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.41",
                    "type": "synonym"
                },
                {
                    "name": "CG30463-PC",
                    "type": "synonym"
                },
                {
                    "name": "Pgant9-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein-UDP acetylgalactosaminyltransferase 9",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9",
                    "type": "synonym"
                },
                {
                    "name": "polypeptide N-Acetylgalactosaminyltransferase 9, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "pp-GaNTase 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgant9",
                    "type": "recommended"
                },
                {
                    "name": "CG15713",
                    "type": "synonym"
                },
                {
                    "name": "CG30463",
                    "type": "synonym"
                },
                {
                    "name": "CG8456",
                    "type": "synonym"
                },
                {
                    "name": "CG8463",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30463",
                    "type": "synonym"
                },
                {
                    "name": "PGANT9",
                    "type": "synonym"
                },
                {
                    "name": "Pgant9",
                    "type": "synonym"
                },
                {
                    "name": "dppGalNAcT9",
                    "type": "synonym"
                },
                {
                    "name": "pgant9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MRC9-1",
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                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14789-1",
            "uniprot_ac": "Q14789",
            "uniprot_id": "GOGB1_HUMAN",
            "refseq_ac": "NP_001243415",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgin subfamily B member 1",
                    "type": "recommended"
                },
                {
                    "name": "372 kDa Golgi complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "GCP372",
                    "type": "synonym"
                },
                {
                    "name": "Giantin",
                    "type": "synonym"
                },
                {
                    "name": "Macrogolgin",
                    "type": "synonym"
                },
                {
                    "name": "giantin",
                    "type": "synonym"
                },
                {
                    "name": "golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1",
                    "type": "synonym"
                },
                {
                    "name": "golgi integral membrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "golgin B1, golgi integral membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "golgin subfamily B member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "golgin subfamily B member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GOLGB1",
                    "type": "recommended"
                },
                {
                    "name": "GCP372",
                    "type": "synonym"
                },
                {
                    "name": "GCP",
                    "type": "synonym"
                },
                {
                    "name": "GOLGB1",
                    "type": "synonym"
                },
                {
                    "name": "GOLIM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14789-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UEF7-1",
            "uniprot_ac": "Q9UEF7",
            "uniprot_id": "KLOT_HUMAN",
            "refseq_ac": "NP_004786",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Klotho",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.31",
                    "type": "synonym"
                },
                {
                    "name": "alpha-klotho",
                    "type": "synonym"
                },
                {
                    "name": "beta-glucuronidase",
                    "type": "synonym"
                },
                {
                    "name": "klotho precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KL",
                    "type": "recommended"
                },
                {
                    "name": "HFTC3",
                    "type": "synonym"
                },
                {
                    "name": "KLA",
                    "type": "synonym"
                },
                {
                    "name": "KL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UEF7-1",
            "evidence": [
                {
                    "id": "0111063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111063"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111063"
}