{
    "disease_id": "DOID:0050585",
    "recommended_name": {
        "id": "DOID:0050585",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050585",
        "name": "congenital generalized lipodystrophy",
        "description": "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance."
    },
    "synonyms": [
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "congenital generalized lipodystrophy type 1",
            "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene."
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "AGPAT2 congenital generalised lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "AGPAT2 congenital generalized lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "BSCL1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "Berardinelli-Seip congenital lipodystrophy, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "CGL1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "congenital generalized lipodystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "AGPAT2-related Brunzell syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "Berardinelli-Seip congenital lipodystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "lipodystrophy, congenital generalized, type 1",
            "description": ""
        },
        {
            "id": "MIM:608594",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608594",
            "name": "Lipodystrophy, congenital generalized, 1",
            "description": "Lipodystrophy, congenital generalized, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0111135",
            "label": "congenital generalized lipodystrophy type 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111136",
            "label": "congenital generalized lipodystrophy type 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111137",
            "label": "congenital generalized lipodystrophy type 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111138",
            "label": "congenital generalized lipodystrophy type 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111135",
        "DOID:0111136",
        "DOID:0050585",
        "DOID:0111137",
        "DOID:0111138"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050585",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050585",
            "categories": []
        },
        {
            "id": "MONDO:0012071",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "categories": []
        },
        {
            "id": "MIM:608594",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608594",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q8R8-1",
            "uniprot_ac": "A0A8M9Q8R8",
            "uniprot_id": "A0A8M9Q8R8_DANRE",
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            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "choline-phosphate cytidylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.15",
                    "type": "synonym"
                },
                {
                    "name": "choline-phosphate cytidylyltransferase A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pcyt1aa",
                    "type": "recommended"
                },
                {
                    "name": "pcyt1aa",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110237",
                    "type": "synonym"
                }
            ],
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                    "id": "0050585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58H682-1",
            "uniprot_ac": "A0AC58H682",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BSCL2 lipid droplet biogenesis associated, seipin, like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bscl2l",
                    "type": "recommended"
                },
                {
                    "name": "bscl2l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110829",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB13A935-1",
            "uniprot_ac": "A0AB13A935",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Berardinelli-Seip congenital lipodystrophy 2 (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Bernardinelli-Seip congenital lipodystrophy 2 (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Seipin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "seipin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bscl2",
                    "type": "recommended"
                },
                {
                    "name": "bscl2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123260",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0050585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49586-1",
            "uniprot_ac": "P49586",
            "uniprot_id": "PCY1A_MOUSE",
            "refseq_ac": "NP_001156631",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline-phosphate cytidylyltransferase A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.15",
                    "type": "synonym"
                },
                {
                    "name": "CCT A",
                    "type": "synonym"
                },
                {
                    "name": "CCT-alpha",
                    "type": "synonym"
                },
                {
                    "name": "CT A",
                    "type": "synonym"
                },
                {
                    "name": "CTP phosphocholine cytidylyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "CTP:phosphocholine cytidylyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "CTP:phosphocholine cytidylyltransferase alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphorylcholine transferase A",
                    "type": "synonym"
                },
                {
                    "name": "choline-phosphate cytidylyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylcholine transferase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcyt1a",
                    "type": "recommended"
                },
                {
                    "name": "CTalpha",
                    "type": "synonym"
                },
                {
                    "name": "Cctalpha",
                    "type": "synonym"
                },
                {
                    "name": "Ctpct",
                    "type": "synonym"
                },
                {
                    "name": "Cttalpha",
                    "type": "synonym"
                },
                {
                    "name": "Pcyt1a",
                    "type": "synonym"
                },
                {
                    "name": "Pcyt1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2E9-1",
            "uniprot_ac": "Q9Z2E9",
            "uniprot_id": "BSCL2_MOUSE",
            "refseq_ac": "NP_001129536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Seipin",
                    "type": "recommended"
                },
                {
                    "name": "Berardinelli-Seip congenital lipodystrophy 2 (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin)",
                    "type": "synonym"
                },
                {
                    "name": "Bernardinelli-Seip congenital lipodystrophy 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Bernardinelli-Seip congenital lipodystrophy type 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "G protein gamma 3 linked",
                    "type": "synonym"
                },
                {
                    "name": "bernardinelli-Seip congenital lipodystrophy type 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "seipin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "seipin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bscl2",
                    "type": "recommended"
                },
                {
                    "name": "2900097C17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bscl2",
                    "type": "synonym"
                },
                {
                    "name": "Gng3lg",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-2630",
                    "type": "synonym"
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            ],
            "record_id": "Q9Z2E9-1",
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                {
                    "id": "0050585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15120-1",
            "uniprot_ac": "O15120",
            "uniprot_id": "PLCB_HUMAN",
            "refseq_ac": "NP_001012745",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta",
                    "type": "recommended"
                },
                {
                    "name": "1-AGP acyltransferase 2",
                    "type": "synonym"
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                {
                    "name": "1-AGPAT 2",
                    "type": "synonym"
                },
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b",
                    "type": "synonym"
                },
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)",
                    "type": "synonym"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "LPAAT-beta",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidic acid acyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidic acid acyltransferase-beta",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipid acyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 143",
                    "type": "synonym"
                }
            ],
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                    "name": "AGPAT2",
                    "type": "recommended"
                },
                {
                    "name": "1-AGPAT2",
                    "type": "synonym"
                },
                {
                    "name": "AGPAT2",
                    "type": "synonym"
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                {
                    "name": "BSCL1",
                    "type": "synonym"
                },
                {
                    "name": "BSCL",
                    "type": "synonym"
                },
                {
                    "name": "LPAAB",
                    "type": "synonym"
                },
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                    "name": "LPAAT-beta",
                    "type": "synonym"
                },
                {
                    "name": "LPLAT2",
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                    "id": "608594",
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            "uniprot_canonical_ac": "Q06058-1",
            "uniprot_ac": "Q06058",
            "uniprot_id": "SEI1_YEAST",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Seipin",
                    "type": "recommended"
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                {
                    "name": "Few lipid droplets protein 1",
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                    "name": "seipin",
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                    "name": "SEI1",
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                {
                    "name": "SEI1",
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                    "id": "0050585",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050585"
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            "uniprot_canonical_ac": "P13259-1",
            "uniprot_ac": "P13259",
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                    "taxid": 559292,
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                }
            ],
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                    "name": "Choline-phosphate cytidylyltransferase",
                    "type": "recommended"
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                    "name": "2.7.7.15",
                    "type": "synonym"
                },
                {
                    "name": "CCT",
                    "type": "synonym"
                },
                {
                    "name": "CTP:phosphocholine cytidylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "CT",
                    "type": "synonym"
                },
                {
                    "name": "Phosphorylcholine transferase",
                    "type": "synonym"
                },
                {
                    "name": "choline-phosphate cytidylyltransferase",
                    "type": "synonym"
                }
            ],
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                    "name": "PCT1",
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                    "name": "BSR2",
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                    "name": "CCT1",
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                    "name": "CCT",
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                    "name": "G7729",
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                    "id": "0050585",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Choline-phosphate cytidylyltransferase A",
                    "type": "recommended"
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                    "name": "2.7.7.15",
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                    "name": "CCT A",
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                    "name": "CCT-alpha",
                    "type": "synonym"
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                {
                    "name": "CT A",
                    "type": "synonym"
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                {
                    "name": "CTP:phosphocholine cytidylyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "CTP:phosphocholine cytidylyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "CTP:phosphocholine cytidylyltransferase alpha",
                    "type": "synonym"
                },
                {
                    "name": "Phosphorylcholine transferase A",
                    "type": "synonym"
                },
                {
                    "name": "choline phosphate cytidylyltransferase 1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "choline-phosphate cytidylyltransferase A-like",
                    "type": "synonym"
                },
                {
                    "name": "choline-phosphate cytidylyltransferase A",
                    "type": "synonym"
                },
                {
                    "name": "phosphate cytidylyltransferase 1, choline, alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylcholine transferase A",
                    "type": "synonym"
                }
            ],
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                    "name": "Pcyt1a",
                    "type": "recommended"
                },
                {
                    "name": "CCT-alpha",
                    "type": "synonym"
                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "Ctpct",
                    "type": "synonym"
                },
                {
                    "name": "Pcyt1a",
                    "type": "synonym"
                },
                {
                    "name": "Pcyt1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVJ6-1",
            "uniprot_ac": "Q5FVJ6",
            "uniprot_id": "BSCL2_RAT",
            "refseq_ac": "NP_001012171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Seipin",
                    "type": "recommended"
                },
                {
                    "name": "BSCL2, seipin lipid droplet biogenesis associated",
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            ],
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                }
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                    "name": "Phosphorylcholine transferase A",
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                    "name": "choline-phosphate cytidylyltransferase A",
                    "type": "synonym"
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                {
                    "name": "choline-phosphate cytidylyltransferase alpha",
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                },
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                    "name": "phosphate cytidylyltransferase 1, choline, alpha",
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                },
                {
                    "name": "phosphorylcholine transferase A",
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                    "name": "CTA",
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                    "id": "0050585",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050585"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050585"
}