{
    "disease_id": "DOID:0050729",
    "recommended_name": {
        "id": "DOID:0050729",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050729",
        "name": "Chanarin-Dorfman syndrome",
        "description": "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues."
    },
    "synonyms": [
        {
            "id": "DOID:0050729",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050729",
            "name": "neutral lipid storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "Dorfman-Chanarin disease",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "Chanarin-Dorfman Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "Chanarin-Dorfman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "NLSDI",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "neutral lipid storage disease with ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "CDS",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "DCs",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "Dorfman Chanarin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "disorder of cornification 12 (neutral lipid storage type)",
            "description": ""
        },
        {
            "id": "MONDO:0010155",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "name": "neutral lipid storage disease with ichthyotic",
            "description": ""
        },
        {
            "id": "MIM:275630",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/275630",
            "name": "Chanarin-Dorfman syndrome",
            "description": "Chanarin-Dorfman syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050729"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050729",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050729",
            "categories": []
        },
        {
            "id": "MONDO:0010155",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010155",
            "categories": []
        },
        {
            "id": "MIM:275630",
            "database": "MIM",
            "url": "https://www.omim.org/entry/275630",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M2BAQ5",
            "uniprot_id": "A0A8M2BAQ5_DANRE",
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                    "taxid": 7955,
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                }
            ],
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                    "name": "(Lyso)-N-acylphosphatidylethanolamine lipase",
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                    "type": "synonym"
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                {
                    "name": "zgc:110267",
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                }
            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
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                }
            ],
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                    "name": "triacylglycerol lipase",
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                    "type": "synonym"
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                    "name": "zgc:92195",
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                }
            ]
        },
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                    "common_name": "Mouse",
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                }
            ],
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                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5",
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                    "type": "synonym"
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                    "name": "Abhydrolase domain-containing protein 5",
                    "type": "synonym"
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                    "name": "Abhd5",
                    "type": "recommended"
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                {
                    "name": "1300003D03Rik",
                    "type": "synonym"
                },
                {
                    "name": "2010002J10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Abhd5",
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                {
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                {
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                    "type": "synonym"
                },
                {
                    "name": "NCIE2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBL9-1",
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                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3V1D5-1",
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                {
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                }
            ],
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                    "name": "Omega-hydroxyceramide transacylase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.296",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "omega-hydroxyceramide transacylase",
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                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                }
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                {
                    "name": "Pnpla1",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
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            ],
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                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VD66-1",
            "uniprot_ac": "Q8VD66",
            "uniprot_id": "ABHD4_MOUSE",
            "refseq_ac": "NP_001192110",
            "glycoprotein": "no",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "(Lyso)-N-acylphosphatidylethanolamine lipase",
                    "type": "recommended"
                },
                {
                    "name": "(Lyso)-N-acylphosphatidylethanolamine lipase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "(Lyso)-N-acylphosphatidylethanolamine lipase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Abhydrolase domain-containing protein 4",
                    "type": "synonym"
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                {
                    "name": "Alpha/beta hydrolase domain-containing protein 4",
                    "type": "synonym"
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                    "name": "Alpha/beta-hydrolase 4",
                    "type": "synonym"
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                {
                    "name": "abhydrolase domain-containing protein 4",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "alpha/beta-hydrolase 4",
                    "type": "synonym"
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                {
                    "name": "lyso-N-acylphosphatidylethanolamine lipase",
                    "type": "synonym"
                },
                {
                    "name": "protein ABHD4",
                    "type": "synonym"
                }
            ],
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                    "name": "Abhd4",
                    "type": "recommended"
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                {
                    "name": "1110035H23Rik",
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                    "name": "Abh4",
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                {
                    "id": "0050729",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
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            "uniprot_canonical_ac": "Q32LZ8-1",
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                    "name": "Mus musculus",
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                }
            ],
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                    "type": "recommended"
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                    "name": "3.1.1.3",
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                    "name": "patatin-like phospholipase domain-containing protein 5",
                    "type": "synonym"
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                {
                    "name": "4833426H19Rik",
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                {
                    "name": "GS2L",
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                {
                    "name": "Pnpla5",
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                {
                    "id": "0050729",
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                {
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                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase Pnpla3",
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                {
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                    "name": "3.1.1.4",
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                {
                    "name": "ADPN",
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                {
                    "name": "Acylglycerol transacylase",
                    "type": "synonym"
                },
                {
                    "name": "Adiponutrin",
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                {
                    "name": "Calcium-independent phospholipase A2-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidic acid acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 3",
                    "type": "synonym"
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                {
                    "name": "acylglycerol O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol transacylase",
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                {
                    "name": "calcium-independent phospholipase A2-epsilon",
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                {
                    "name": "iPLA2-epsilon",
                    "type": "synonym"
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                {
                    "name": "lysophosphatidic acid acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 3",
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                    "id": "0050729",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
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            ],
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                {
                    "name": "Adipose triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-independent phospholipase A2-zeta",
                    "type": "synonym"
                },
                {
                    "name": "Desnutrin",
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                {
                    "name": "adipose triglyceride lipase",
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                {
                    "name": "calcium-independent phospholipase A2-zeta",
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                {
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                    "name": "patatin-like phospholipase domain-containing protein 2 isoform 1",
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                {
                    "name": "transport-secretion protein",
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                {
                    "name": "triglyceride hydrolase",
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                    "name": "TTS-2.2",
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                {
                    "id": "0050729",
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            ]
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            "uniprot_canonical_ac": "Q8WTS1-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
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            ],
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                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5",
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                {
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                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5",
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                    "name": "2.3.1.51",
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                },
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                {
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                {
                    "name": "CGI58",
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                {
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                {
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                }
            ],
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                {
                    "id": "275630",
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                    "url": "https://www.omim.org/entry/275630"
                },
                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12385-1",
            "uniprot_ac": "Q12385",
            "uniprot_id": "ICT1_YEAST",
            "refseq_ac": "NP_013200",
            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
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                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ICT1",
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                {
                    "name": "2.3.1.51",
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                },
                {
                    "name": "Increased copper tolerance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "LPAAT",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidic acid acyltransferase ICT1",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidic acid acyltransferase ICT1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ICT1",
                    "type": "recommended"
                },
                {
                    "name": "ICT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12385-1",
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                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53264-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Cardiolipin-specific deacylase 1, mitochondrial",
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                },
                {
                    "name": "3.5.1.-",
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                },
                {
                    "name": "carboxylic ester hydrolase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CLD1",
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                },
                {
                    "name": "CLD1",
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                },
                {
                    "name": "G6140",
                    "type": "synonym"
                }
            ],
            "record_id": "P53264-1",
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                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q04623-1",
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                {
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Protein ECM18",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
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                },
                {
                    "name": "Extracellular mutant protein 18",
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                },
                {
                    "name": "alpha/beta hydrolase family protein",
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                }
            ],
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                {
                    "name": "ECM18",
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                },
                {
                    "name": "ECM18",
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                {
                    "name": "YD9727.20C",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050729",
                    "database": "AGR",
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                }
            ]
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            "uniprot_canonical_ac": "Q6QA69-1",
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                }
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                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5",
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                },
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                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5",
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                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "Abhydrolase domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Lipid droplet-binding protein CGI-58",
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                },
                {
                    "name": "Protein CGI-58",
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                {
                    "name": "abhydrolase domain-containing protein 5",
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                {
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                }
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                {
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                    "name": "Abhd5",
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                },
                {
                    "name": "CGI-58",
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                }
            ],
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                {
                    "id": "0050729",
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                }
            ]
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Acylglycerol transacylase",
                    "type": "recommended"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase PNPLA3",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Adiponutrin",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-independent phospholipase A2-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidic acid acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "adiponutrin",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Pnpla3",
                    "type": "recommended"
                },
                {
                    "name": "Adpn",
                    "type": "synonym"
                },
                {
                    "name": "Pnpla3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z9J9-1",
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                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C548-1",
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                    "taxid": 10116,
                    "common_name": "Rat",
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                }
            ],
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                {
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                    "type": "recommended"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Adipose triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-independent phospholipase A2-zeta",
                    "type": "synonym"
                },
                {
                    "name": "adipose triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "calcium-independent phospholipase A2-zeta",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2-zeta",
                    "type": "synonym"
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                {
                    "name": "patatin-like phospholipase domain containing 2",
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                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 2-like",
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                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 2",
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                }
            ],
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                {
                    "name": "Pnpla2",
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                {
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                },
                {
                    "name": "Pnpla2",
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                {
                    "name": "RGD1309044",
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                }
            ],
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                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
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            "refseq_ac": "",
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                    "taxid": 10116,
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Patatin-like phospholipase domain-containing protein 5",
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                {
                    "name": "3.1.1.3",
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                }
            ],
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                {
                    "name": "Pnpla5",
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                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "(Lyso)-N-acylphosphatidylethanolamine lipase",
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                },
                {
                    "name": "(Lyso)-N-acylphosphatidylethanolamine lipase",
                    "type": "synonym"
                },
                {
                    "name": "Alpha/beta hydrolase domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Alpha/beta-hydrolase 4",
                    "type": "synonym"
                },
                {
                    "name": "abhydrolase domain-containing protein 4",
                    "type": "synonym"
                }
            ],
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                    "name": "Abhd4",
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                },
                {
                    "name": "Abh4",
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                },
                {
                    "name": "Abhd4",
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                }
            ],
            "record_id": "D3ZAW4-1",
            "evidence": [
                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A3G9-1",
            "uniprot_ac": "D4A3G9",
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            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Omega-hydroxyceramide transacylase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.296",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pnpla1",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A3G9-1",
            "evidence": [
                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JI03-1",
            "uniprot_ac": "E1JI03",
            "uniprot_id": "E1JI03_DROME",
            "refseq_ac": "NP_001163445",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "triacylglycerol lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "CG5295-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmATGL",
                    "type": "synonym"
                },
                {
                    "name": "adipocyte triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "adipose triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "bmm-PB",
                    "type": "synonym"
                },
                {
                    "name": "brummer TAG lipase",
                    "type": "synonym"
                },
                {
                    "name": "brummer lipase",
                    "type": "synonym"
                },
                {
                    "name": "brummer, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bmm",
                    "type": "recommended"
                },
                {
                    "name": "ATGL",
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                },
                {
                    "name": "Atgl",
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                },
                {
                    "name": "BMM",
                    "type": "synonym"
                },
                {
                    "name": "Bmm",
                    "type": "synonym"
                },
                {
                    "name": "CG5295",
                    "type": "synonym"
                },
                {
                    "name": "DmATGL",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5295",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5295",
                    "type": "synonym"
                },
                {
                    "name": "SCAP",
                    "type": "synonym"
                },
                {
                    "name": "TGL",
                    "type": "synonym"
                },
                {
                    "name": "bmm",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JI03-1",
            "evidence": [
                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXY8-1",
            "uniprot_ac": "Q9VXY8",
            "uniprot_id": "Q9VXY8_DROME",
            "refseq_ac": "NP_572995",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "triacylglycerol lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.3",
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                },
                {
                    "name": "CG5560-PA",
                    "type": "synonym"
                },
                {
                    "name": "dob-PA",
                    "type": "synonym"
                },
                {
                    "name": "doppelganger von brummer",
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                }
            ],
            "gene_names": [
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                    "name": "dob",
                    "type": "recommended"
                },
                {
                    "name": "CG5560",
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                },
                {
                    "name": "Dmel\\CG5560",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5560",
                    "type": "synonym"
                },
                {
                    "name": "Dob",
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                },
                {
                    "name": "dob",
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                }
            ],
            "record_id": "Q9VXY8-1",
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                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TB40-1",
            "uniprot_ac": "Q8TB40",
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            "species": [
                {
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                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "(Lyso)-N-acylphosphatidylethanolamine lipase",
                    "type": "recommended"
                },
                {
                    "name": "(Lyso)-N-acylphosphatidylethanolamine lipase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "(Lyso)-N-acylphosphatidylethanolamine lipase",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.-",
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                },
                {
                    "name": "Abhydrolase domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Alpha/beta hydrolase domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Alpha/beta-hydrolase 4",
                    "type": "synonym"
                },
                {
                    "name": "abhydrolase domain-containing protein 4",
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                },
                {
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                {
                    "name": "alpha/beta-hydrolase 4",
                    "type": "synonym"
                },
                {
                    "name": "lyso-N-acylphosphatidylethanolamine lipase",
                    "type": "synonym"
                },
                {
                    "name": "protein ABHD4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABHD4",
                    "type": "recommended"
                },
                {
                    "name": "ABH4",
                    "type": "synonym"
                },
                {
                    "name": "ABHD4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TB40-1",
            "evidence": [
                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NST1-1",
            "uniprot_ac": "Q9NST1",
            "uniprot_id": "PLPL3_HUMAN",
            "refseq_ac": "NP_079501",
            "glycoprotein": "yes",
            "species": [
                {
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                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase PNPLA3",
                    "type": "recommended"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase PNPLA3",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "ADPN",
                    "type": "synonym"
                },
                {
                    "name": "Acylglycerol transacylase",
                    "type": "synonym"
                },
                {
                    "name": "Adiponutrin",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-independent phospholipase A2-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidic acid acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acylglycerol transacylase",
                    "type": "synonym"
                },
                {
                    "name": "adiponutrin",
                    "type": "synonym"
                },
                {
                    "name": "calcium-independent phospholipase A2-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2epsilon",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidic acid acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "patatin like phospholipase domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNPLA3",
                    "type": "recommended"
                },
                {
                    "name": "ADPN",
                    "type": "synonym"
                },
                {
                    "name": "C22orf20",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA3",
                    "type": "synonym"
                },
                {
                    "name": "iPLA(2)epsilon",
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                }
            ],
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                {
                    "id": "0050729",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q8N8W4-1",
            "uniprot_ac": "Q8N8W4",
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            "refseq_ac": "NP_001139188",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Omega-hydroxyceramide transacylase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.296",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "omega-hydroxyceramide transacylase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "omega-hydroxyceramide transacylase",
                    "type": "synonym"
                },
                {
                    "name": "patatin like phospholipase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNPLA1",
                    "type": "recommended"
                },
                {
                    "name": "ARCI10",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA1",
                    "type": "synonym"
                },
                {
                    "name": "dJ50J22.1",
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                }
            ],
            "record_id": "Q8N8W4-1",
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                {
                    "id": "0050729",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96AD5-1",
            "uniprot_ac": "Q96AD5",
            "uniprot_id": "PLPL2_HUMAN",
            "refseq_ac": "NP_065109",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Patatin-like phospholipase domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Adipose triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-independent phospholipase A2-zeta",
                    "type": "synonym"
                },
                {
                    "name": "Desnutrin",
                    "type": "synonym"
                },
                {
                    "name": "IPLA2-zeta",
                    "type": "synonym"
                },
                {
                    "name": "PEDF-R",
                    "type": "synonym"
                },
                {
                    "name": "Pigment epithelium-derived factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "TTS2.2",
                    "type": "synonym"
                },
                {
                    "name": "TTS2",
                    "type": "synonym"
                },
                {
                    "name": "Transport-secretion protein 2",
                    "type": "synonym"
                },
                {
                    "name": "adipose triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "calcium-independent phospholipase A2-zeta",
                    "type": "synonym"
                },
                {
                    "name": "calcium-independent phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "desnutrin",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2-zeta",
                    "type": "synonym"
                },
                {
                    "name": "mutant patatin-like phospholipase domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "patatin like phospholipase domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "pigment epithelium-derived factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "pigment epithelium-derived factor",
                    "type": "synonym"
                },
                {
                    "name": "transport-secretion protein 2.2",
                    "type": "synonym"
                },
                {
                    "name": "triglyceride hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNPLA2",
                    "type": "recommended"
                },
                {
                    "name": "1110001C14Rik",
                    "type": "synonym"
                },
                {
                    "name": "ATGL",
                    "type": "synonym"
                },
                {
                    "name": "FP17548",
                    "type": "synonym"
                },
                {
                    "name": "PEDF-R",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA2",
                    "type": "synonym"
                },
                {
                    "name": "TTS-2.2",
                    "type": "synonym"
                },
                {
                    "name": "TTS2",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2zeta",
                    "type": "synonym"
                }
            ],
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                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z6Z6-1",
            "uniprot_ac": "Q7Z6Z6",
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            "refseq_ac": "NP_001171146",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Patatin-like phospholipase domain-containing protein 5",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "GS2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "patatin like phospholipase domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PNPLA5",
                    "type": "recommended"
                },
                {
                    "name": "GS2L",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA5",
                    "type": "synonym"
                },
                {
                    "name": "dJ388M5.4",
                    "type": "synonym"
                },
                {
                    "name": "dJ388M5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z6Z6-1",
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                {
                    "id": "0050729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050729"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050729"
}