{
    "disease_id": "DOID:0050561",
    "recommended_name": {
        "id": "DOID:0050561",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050561",
        "name": "Lennox-Gastaut syndrome",
        "description": "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood."
    },
    "synonyms": [
        {
            "id": "DOID:0050561",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050561",
            "name": "Lennox syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0016532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016532",
            "name": "Lennox-Gastaut syndrome",
            "description": "Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies."
        },
        {
            "id": "MONDO:0016532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016532",
            "name": "LGS",
            "description": ""
        },
        {
            "id": "MONDO:0016532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016532",
            "name": "encephalopathy of childhood",
            "description": ""
        },
        {
            "id": "MONDO:0016532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016532",
            "name": "epileptic encephalopathy Lennox-Gastaut type",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050561"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050561",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050561",
            "categories": []
        },
        {
            "id": "MONDO:0016532",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016532",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BDH7-1",
            "uniprot_ac": "A0A8M2BDH7",
            "uniprot_id": "A0A8M2BDH7_DANRE",
            "refseq_ac": "XP_021327485",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-aminobutyric acid receptor subunit beta-3 isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gabrb3",
                    "type": "recommended"
                },
                {
                    "name": "gabrb3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BDH7-1",
            "evidence": [
                {
                    "id": "0050561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63080-1",
            "uniprot_ac": "P63080",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Gamma-aminobutyric acid receptor subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "cleft palate 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, subunit beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrb3",
                    "type": "recommended"
                },
                {
                    "name": "A230092K12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cp1",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb-3",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb3",
                    "type": "synonym"
                },
                {
                    "name": "beta3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PUQ8-1",
            "uniprot_ac": "E9PUQ8",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol kinase delta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "DAG kinase delta",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase delta",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dgkd",
                    "type": "recommended"
                },
                {
                    "name": "D330025K09",
                    "type": "synonym"
                },
                {
                    "name": "DGKdelta",
                    "type": "synonym"
                },
                {
                    "name": "Dgkd",
                    "type": "synonym"
                },
                {
                    "name": "dgkd-2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M875-1",
            "uniprot_ac": "A0ABK0M875",
            "uniprot_id": "A0ABK0M875_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.107",
                    "type": "synonym"
                },
                {
                    "name": "DAG kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dgkd",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M875-1",
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                {
                    "id": "0050561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63079-1",
            "uniprot_ac": "P63079",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-aminobutyric acid receptor subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "GABA-alpha receptor beta-3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-aminobutyric acid receptor beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA-A) receptor, subunit beta 3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor beta 3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "testis gamma-aminobutyric acid receptor subunit beta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabrb3",
                    "type": "recommended"
                },
                {
                    "name": "Gabrb-3",
                    "type": "synonym"
                },
                {
                    "name": "Gabrb3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35364-1",
            "uniprot_ac": "P35364",
            "uniprot_id": "5HT5A_RAT",
            "refseq_ac": "NP_037280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-hydroxytryptamine receptor 5A",
                    "type": "recommended"
                },
                {
                    "name": "5-HT-5A",
                    "type": "synonym"
                },
                {
                    "name": "5-HT5A",
                    "type": "synonym"
                },
                {
                    "name": "5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled",
                    "type": "synonym"
                },
                {
                    "name": "5-hydroxytryptamine receptor 5A",
                    "type": "synonym"
                },
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                    "name": "REC17",
                    "type": "synonym"
                },
                {
                    "name": "Serotonin receptor 5A",
                    "type": "synonym"
                },
                {
                    "name": "serotonin receptor 5A",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Htr5a",
                    "type": "recommended"
                },
                {
                    "name": "5HT5A",
                    "type": "synonym"
                },
                {
                    "name": "5ht5a",
                    "type": "synonym"
                },
                {
                    "name": "Htr5a",
                    "type": "synonym"
                },
                {
                    "name": "MR22",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050561",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050561"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JQ65-1",
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                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Diacylglycerol kinase eta",
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                    "name": "CG34384-PA",
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                {
                    "name": "DAG kinase eta",
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                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
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            ],
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                    "name": "CG2667",
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                    "name": "CG31187",
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                },
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                    "name": "CG14462",
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                },
                {
                    "name": "CG2667",
                    "type": "synonym"
                },
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                    "name": "CG31187",
                    "type": "synonym"
                },
                {
                    "name": "CG34384",
                    "type": "synonym"
                },
                {
                    "name": "CG9851",
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                },
                {
                    "name": "DGKd",
                    "type": "synonym"
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                {
                    "name": "DgkD",
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                    "name": "Dmel\\CG34384",
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                    "name": "Dmel_CG34384",
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                    "name": "dgkd",
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                    "name": "dgk",
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                    "id": "0050561",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Gamma-aminobutyric acid receptor subunit beta-like",
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                    "name": "CG17336-PC",
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                },
                {
                    "name": "GABA receptor beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABA(A) receptor",
                    "type": "synonym"
                },
                {
                    "name": "Lcch3-PC",
                    "type": "synonym"
                },
                {
                    "name": "Ligand-gated chloride channel homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "ligand-gated chloride channel homologue 3",
                    "type": "synonym"
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                {
                    "name": "ligand-gated chloride channel",
                    "type": "synonym"
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                    "name": "Lcch3",
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                    "name": "CG17336",
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                },
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                    "name": "CT38330",
                    "type": "synonym"
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                {
                    "name": "DmGABAbeta",
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                },
                {
                    "name": "DmGA_b",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17336",
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                },
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                    "name": "LCCH3",
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                    "id": "0050561",
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                }
            ]
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            "uniprot_canonical_ac": "P22680-1",
            "uniprot_ac": "P22680",
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                    "name": "Homo sapiens",
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                    "name": "Cytochrome P450 7A1",
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                    "name": "24-hydroxycholesterol 7-alpha-hydroxylase",
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                    "name": "CYPVII",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol 7-alpha-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
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                {
                    "name": "cholesterol 7-alpha-monooxygenase",
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                {
                    "name": "cholesterol 7alpha-hydroxylase",
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                },
                {
                    "name": "cytochrome P450 7A1",
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                {
                    "name": "cytochrome P450, family 7, subfamily A, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily VIIA polypeptide 1",
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                }
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                    "name": "CYP7A1",
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                    "name": "CYP7A1",
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                    "name": "CYP7",
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                    "id": "0050561",
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            ],
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                    "name": "Gamma-aminobutyric acid receptor subunit beta-3",
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                    "name": "GABA(A) receptor subunit beta-3",
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                {
                    "name": "GABAA receptor beta-3 subunit",
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                    "name": "gamma-aminobutyric acid (GABA) A receptor, beta 3",
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                    "name": "gamma-aminobutyric acid A receptor beta 3",
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                    "name": "gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor",
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                    "name": "gamma-aminobutyric acid type A receptor beta3 subunit",
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                    "name": "gamma-aminobutyric acid type A receptor subunit beta 3",
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                    "name": "GABRB3",
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                    "name": "DEE43",
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                    "name": "EIEE43",
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                    "name": "GABRB3",
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            ],
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                    "id": "0050561",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050561"
                }
            ]
        },
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                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Diacylglycerol kinase delta",
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                },
                {
                    "name": "130 kDa diacylglycerol kinase",
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                {
                    "name": "2.7.1.107",
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                },
                {
                    "name": "DAG kinase delta",
                    "type": "synonym"
                },
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                    "name": "DGK-delta",
                    "type": "synonym"
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                {
                    "name": "Diglyceride kinase delta",
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                {
                    "name": "diacylglycerol kinase delta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol kinase, delta 130kDa",
                    "type": "synonym"
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                {
                    "name": "diglyceride kinase delta",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "DGKD",
                    "type": "recommended"
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                    "name": "DGK-delta",
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                },
                {
                    "name": "DGKD",
                    "type": "synonym"
                },
                {
                    "name": "DGKdelta",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0145",
                    "type": "synonym"
                },
                {
                    "name": "dgkd-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16760-1",
            "evidence": [
                {
                    "id": "0050561",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050561"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050561"
}