{
    "disease_id": "DOID:0060656",
    "recommended_name": {
        "id": "DOID:0060656",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060656",
        "name": "autosomal recessive congenital ichthyosis 1",
        "description": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060656",
            "name": "ARCI1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "autosomal recessive congenital ichthyosis 1",
            "description": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene."
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ARCI1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "autosomal recessive congenital ichthyosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "autosomal recessive congenital ichthyosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, congenital, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "LI1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "collodion fetus",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "collodion foetus",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "desquamation of newborn",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis congenita",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis lamellar 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, congenital, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "ichthyosis, lamellar, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "lamellar exfoliation of newborn",
            "description": ""
        },
        {
            "id": "MONDO:0009441",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "name": "lamellar ichthyosis, type 1",
            "description": ""
        },
        {
            "id": "MIM:242300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242300",
            "name": "Ichthyosis, congenital, autosomal recessive 1",
            "description": "Ichthyosis, congenital, autosomal recessive 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060656"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060656",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060656",
            "categories": []
        },
        {
            "id": "MONDO:0009441",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009441",
            "categories": []
        },
        {
            "id": "MIM:242300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/242300",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "A0A8N7T793-1",
            "uniprot_ac": "A0A8N7T793",
            "uniprot_id": "A0A8N7T793_DANRE",
            "refseq_ac": "XP_686632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein abca12",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein abca12",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "abca12",
                    "type": "recommended"
                },
                {
                    "name": "abca12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7T793-1",
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                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
        {
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            "refseq_ac": "XP_017208558",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroperoxide isomerase ALOXE3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxide isomerase ALOXE3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-17e16.9",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-17e16.9",
                    "type": "synonym"
                }
            ],
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                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QKM3-1",
            "uniprot_ac": "F1QKM3",
            "uniprot_id": "F1QKM3_DANRE",
            "refseq_ac": "NP_001070178",
            "glycoprotein": "no",
            "species": [
                {
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.13.11.12",
                    "type": "synonym"
                },
                {
                    "name": "ALOX4b",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein LOC767741",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC767741",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zgc:152891",
                    "type": "recommended"
                },
                {
                    "name": "zgc:153926",
                    "type": "recommended"
                },
                {
                    "name": "alox12b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi89d03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152891",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153926",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QKM3-1",
            "evidence": [
                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32THJ9-1",
            "uniprot_ac": "A0AB32THJ9",
            "uniprot_id": "A0AB32THJ9_DANRE",
            "refseq_ac": "XP_068072913",
            "glycoprotein": "no",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase K",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal TGase",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase K",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-1",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase K isoform X2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "tgm1l5",
                    "type": "recommended"
                },
                {
                    "name": "tgm1l5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32THJ9-1",
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                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PX16-1",
            "uniprot_ac": "A0A8M9PX16",
            "uniprot_id": "A0A8M9PX16_DANRE",
            "refseq_ac": "XP_021325715",
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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": "Protein-glutamine gamma-glutamyltransferase K",
                    "type": "recommended"
                },
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                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal TGase",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase K",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-1",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase K isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tgm1l6",
                    "type": "recommended"
                },
                {
                    "name": "tgm1l6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PX16-1",
            "evidence": [
                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AVQ9-1",
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            "refseq_ac": "XP_009295369",
            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Protein-glutamine gamma-glutamyltransferase K",
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                },
                {
                    "name": "2.3.2.13",
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                },
                {
                    "name": "Epidermal TGase",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase K",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-1",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tgm1l2",
                    "type": "recommended"
                },
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            "record_id": "A0A8M3AVQ9-1",
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                    "id": "0060656",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
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            "uniprot_canonical_ac": "A0A8M3AV10-1",
            "uniprot_ac": "A0A8M3AV10",
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            "refseq_ac": "XP_009294851",
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                    "name": "Danio rerio",
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                    "name": "Protein-glutamine gamma-glutamyltransferase K",
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                },
                {
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                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase K isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "tgm1",
                    "type": "recommended"
                },
                {
                    "name": "tgm1",
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                }
            ],
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                {
                    "id": "0060656",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLF6-1",
            "uniprot_ac": "Q9JLF6",
            "uniprot_id": "TGM1_MOUSE",
            "refseq_ac": "NP_001155186",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Protein-glutamine gamma-glutamyltransferase K",
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                },
                {
                    "name": "Epidermal TGase",
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                },
                {
                    "name": "K polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "TG(K)",
                    "type": "synonym"
                },
                {
                    "name": "TGK",
                    "type": "synonym"
                },
                {
                    "name": "TGase K",
                    "type": "synonym"
                },
                {
                    "name": "TGase-1",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase K",
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                },
                {
                    "name": "Transglutaminase-1",
                    "type": "synonym"
                },
                {
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                },
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                    "name": "protein-glutamine gamma-glutamyltransferase K",
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                {
                    "name": "transglutaminase K",
                    "type": "synonym"
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                }
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                    "name": "Tgm1",
                    "type": "recommended"
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                {
                    "name": "2310004J08Rik",
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                },
                {
                    "name": "Tgase1",
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                },
                {
                    "name": "Tgm1",
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            ],
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                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
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                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramide transporter ABCA12",
                    "type": "recommended"
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                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 12",
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                    "id": "0060656",
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                }
            ],
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                },
                {
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                },
                {
                    "name": "Hydroperoxy dehydratase ALOXE3",
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                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate isomerase",
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                },
                {
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                },
                {
                    "name": "epidermal LOX-3",
                    "type": "synonym"
                },
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                    "name": "epidermis-type lipoxygenase 3",
                    "type": "synonym"
                },
                {
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate isomerase",
                    "type": "synonym"
                }
            ],
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                    "name": "Aloxe3",
                    "type": "recommended"
                },
                {
                    "name": "Aloxe3",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "eLOX-3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9DBL9-1",
            "uniprot_ac": "Q9DBL9",
            "uniprot_id": "ABHD5_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5",
                    "type": "recommended"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "Abhydrolase domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Lipid droplet-binding protein CGI-58",
                    "type": "synonym"
                },
                {
                    "name": "Protein CGI-58",
                    "type": "synonym"
                },
                {
                    "name": "abhydrolase domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "lipid droplet-binding protein CGI-58",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abhd5",
                    "type": "recommended"
                },
                {
                    "name": "1300003D03Rik",
                    "type": "synonym"
                },
                {
                    "name": "2010002J10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Abhd5",
                    "type": "synonym"
                },
                {
                    "name": "CGI-58",
                    "type": "synonym"
                },
                {
                    "name": "IECN5",
                    "type": "synonym"
                },
                {
                    "name": "NCIE2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBL9-1",
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                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22735-1",
            "uniprot_ac": "P22735",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase K",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
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                },
                {
                    "name": "Epidermal TGase",
                    "type": "synonym"
                },
                {
                    "name": "K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "TG(K)",
                    "type": "synonym"
                },
                {
                    "name": "TGK",
                    "type": "synonym"
                },
                {
                    "name": "TGase K",
                    "type": "synonym"
                },
                {
                    "name": "TGase-1",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase K",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-1",
                    "type": "synonym"
                },
                {
                    "name": "epidermal TGase",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase K",
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                },
                {
                    "name": "transglutaminase K",
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                },
                {
                    "name": "transglutaminase, keratinocyte",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "TGM1",
                    "type": "recommended"
                },
                {
                    "name": "ARCI1",
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                },
                {
                    "name": "ICR2",
                    "type": "synonym"
                },
                {
                    "name": "KTG",
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                },
                {
                    "name": "LI1",
                    "type": "synonym"
                },
                {
                    "name": "LI",
                    "type": "synonym"
                },
                {
                    "name": "TGASE",
                    "type": "synonym"
                },
                {
                    "name": "TGK",
                    "type": "synonym"
                },
                {
                    "name": "TGM1",
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                }
            ],
            "record_id": "P22735-1",
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                {
                    "id": "242300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/242300"
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                {
                    "id": "0060656",
                    "database": "AGR",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q12385-1",
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                {
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                }
            ],
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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",
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                }
            ],
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                    "name": "ICT1",
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                {
                    "name": "ICT1",
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                {
                    "id": "0060656",
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                }
            ]
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        {
            "uniprot_canonical_ac": "P53264-1",
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            ],
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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": "G6140",
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                }
            ],
            "record_id": "P53264-1",
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                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
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                }
            ],
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                {
                    "name": "Protein ECM18",
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                },
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                    "name": "2.3.1.-",
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                },
                {
                    "name": "Extracellular mutant protein 18",
                    "type": "synonym"
                },
                {
                    "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",
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                }
            ],
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                {
                    "id": "0060656",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "ATP binding cassette subfamily A member 12",
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                {
                    "name": "ATP-binding cassette sub-family A member 12",
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                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 12",
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                },
                {
                    "name": "ATP-binding cassette, subfamily A (ABC1), member 12",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramide transporter ABCA12",
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                }
            ],
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                {
                    "name": "Abca12",
                    "type": "recommended"
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                {
                    "name": "Abca12",
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                }
            ],
            "record_id": "D4A7J3-1",
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                {
                    "id": "0060656",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
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        {
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                {
                    "name": "5.4.4.7",
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                {
                    "name": "Epidermal LOX-3",
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                {
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                },
                {
                    "name": "Hydroperoxy dehydratase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate isomerase",
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                },
                {
                    "name": "arachidonate lipoxygenase 3",
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                {
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                },
                {
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                {
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                {
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                {
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                },
                {
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                },
                {
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                },
                {
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                }
            ],
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                {
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                {
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                },
                {
                    "name": "eLOX-3",
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            ],
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                    "id": "0060656",
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                }
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                }
            ],
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                {
                    "name": "2.3.1.51",
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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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            ],
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                {
                    "id": "0060656",
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                }
            ]
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                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                {
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                {
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                {
                    "name": "TG(K)",
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                {
                    "name": "TGase K",
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                },
                {
                    "name": "TGase-1",
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                },
                {
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                },
                {
                    "name": "Transglutaminase-1",
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                },
                {
                    "name": "epidermal TGase",
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                {
                    "name": "protein-glutamine gamma-glutamyltransferase K isoform 1",
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                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase K",
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                },
                {
                    "name": "transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)",
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                },
                {
                    "name": "transglutaminase 1, K polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase K",
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                }
            ],
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                {
                    "name": "Tgm1",
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                },
                {
                    "name": "Tgm1",
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                }
            ],
            "record_id": "P23606-1",
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                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
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        {
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG34120-PE",
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                },
                {
                    "name": "Lipid droplet defective, isoform E",
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                },
                {
                    "name": "ldd-PE",
                    "type": "synonym"
                },
                {
                    "name": "lipid droplet defective, isoform E",
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                }
            ],
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                {
                    "name": "ldd",
                    "type": "recommended"
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                {
                    "name": "BcDNA:AT04622",
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                },
                {
                    "name": "CG1819",
                    "type": "synonym"
                },
                {
                    "name": "CG32516",
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                },
                {
                    "name": "CG34120",
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                },
                {
                    "name": "DmCG1819",
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                {
                    "name": "Dmel\\CG34120",
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                },
                {
                    "name": "Dmel_CG34120",
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                {
                    "name": "ldd",
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            ],
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                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q9VLU2-1",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "protein-glutamine gamma-glutamyltransferase",
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                {
                    "name": "2.3.2.13",
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                },
                {
                    "name": "CG7356-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tg-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-A",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase, isoform A",
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                },
                {
                    "name": "transglutaminase",
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            ],
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                    "type": "recommended"
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                {
                    "name": "CG7356",
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                },
                {
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                },
                {
                    "name": "Dmel\\CG7356",
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                },
                {
                    "name": "Dmel_CG7356",
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                },
                {
                    "name": "TG",
                    "type": "synonym"
                },
                {
                    "name": "Tg",
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                },
                {
                    "name": "dTG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "dTG",
                    "type": "synonym"
                },
                {
                    "name": "tg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLU2-1",
            "evidence": [
                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WTS1-1",
            "uniprot_ac": "Q8WTS1",
            "uniprot_id": "ABHD5_HUMAN",
            "refseq_ac": "NP_057090",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5",
                    "type": "recommended"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "Abhydrolase domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Lipid droplet-binding protein CGI-58",
                    "type": "synonym"
                },
                {
                    "name": "abhydrolase domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "lipid droplet-binding protein CGI-58",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABHD5",
                    "type": "recommended"
                },
                {
                    "name": "ABHD5",
                    "type": "synonym"
                },
                {
                    "name": "CGI-58",
                    "type": "synonym"
                },
                {
                    "name": "CGI58",
                    "type": "synonym"
                },
                {
                    "name": "IECN2",
                    "type": "synonym"
                },
                {
                    "name": "NCIE2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WTS1-1",
            "evidence": [
                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYJ1-1",
            "uniprot_ac": "Q9BYJ1",
            "uniprot_id": "LOXE3_HUMAN",
            "refseq_ac": "NP_001159432",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroperoxide isomerase ALOXE3",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "5.4.4.7",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal lipoxygenase-3",
                    "type": "synonym"
                },
                {
                    "name": "Epidermis-type lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy dehydratase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Lamellar ichthyosis 5",
                    "type": "synonym"
                },
                {
                    "name": "arachidonate lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "e-LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "eLOX-3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal LOX-3",
                    "type": "synonym"
                },
                {
                    "name": "epidermal lipoxygenase",
                    "type": "synonym"
                },
                {
                    "name": "epidermis-type lipoxygenase 3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxide isomerase ALOXE3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxide isomerase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy dehydratase ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALOXE3",
                    "type": "recommended"
                },
                {
                    "name": "ALOXE3",
                    "type": "synonym"
                },
                {
                    "name": "ARCI3",
                    "type": "synonym"
                },
                {
                    "name": "E-LOX",
                    "type": "synonym"
                },
                {
                    "name": "LI5",
                    "type": "synonym"
                },
                {
                    "name": "eLOX-3",
                    "type": "synonym"
                },
                {
                    "name": "eLOX3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYJ1-1",
            "evidence": [
                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86UK0-1",
            "uniprot_ac": "Q86UK0",
            "uniprot_id": "ABCAC_HUMAN",
            "refseq_ac": "NP_056472",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosylceramide transporter ABCA12",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter 12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 12",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramide transporter ABCA12 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "glucosylceramide transporter ABCA12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCA12",
                    "type": "recommended"
                },
                {
                    "name": "ABC12",
                    "type": "synonym"
                },
                {
                    "name": "ABCA12",
                    "type": "synonym"
                },
                {
                    "name": "ARCI4A",
                    "type": "synonym"
                },
                {
                    "name": "ARCI4B",
                    "type": "synonym"
                },
                {
                    "name": "ICR2B",
                    "type": "synonym"
                },
                {
                    "name": "LI2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86UK0-1",
            "evidence": [
                {
                    "id": "0060656",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060656"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060656"
}