{
    "disease_id": "DOID:0070545",
    "recommended_name": {
        "id": "DOID:0070545",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070545",
        "name": "developmental and epileptic encephalopathy 116",
        "description": "A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070545",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070545",
            "name": "DEE116",
            "description": ""
        },
        {
            "id": "MONDO:0970945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0970945",
            "name": "developmental and epileptic encephalopathy 116",
            "description": ""
        },
        {
            "id": "MIM:620806",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620806",
            "name": "Developmental and epileptic encephalopathy 116",
            "description": "Developmental and epileptic encephalopathy 116"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070545"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070545",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070545",
            "categories": []
        },
        {
            "id": "MONDO:0970945",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0970945",
            "categories": []
        },
        {
            "id": "MIM:620806",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620806",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15105-1",
            "uniprot_ac": "P15105",
            "uniprot_id": "GLNA_MOUSE",
            "refseq_ac": "NP_032157",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamine synthetase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.225",
                    "type": "synonym"
                },
                {
                    "name": "6.3.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GS",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--ammonia ligase",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyltransferase GLUL",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-ammonia ligase (glutamine synthase)",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-ammonia ligase (glutamine synthetase)",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyltransferase GLUL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glul",
                    "type": "recommended"
                },
                {
                    "name": "GS",
                    "type": "synonym"
                },
                {
                    "name": "Glns",
                    "type": "synonym"
                },
                {
                    "name": "Glul",
                    "type": "synonym"
                }
            ],
            "record_id": "P15105-1",
            "evidence": [
                {
                    "id": "0070545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15104-1",
            "uniprot_ac": "P15104",
            "uniprot_id": "GLNA_HUMAN",
            "refseq_ac": "NP_001028216",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamine synthetase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.225",
                    "type": "synonym"
                },
                {
                    "name": "6.3.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GS",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--ammonia ligase",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyltransferase GLUL",
                    "type": "synonym"
                },
                {
                    "name": "cell proliferation-inducing protein 59",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyltransferase GLUL",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-inducing protein 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLUL",
                    "type": "recommended"
                },
                {
                    "name": "DEE116",
                    "type": "synonym"
                },
                {
                    "name": "GLNS",
                    "type": "synonym"
                },
                {
                    "name": "GLUL",
                    "type": "synonym"
                },
                {
                    "name": "GS",
                    "type": "synonym"
                },
                {
                    "name": "PIG43",
                    "type": "synonym"
                },
                {
                    "name": "PIG59",
                    "type": "synonym"
                }
            ],
            "record_id": "P15104-1",
            "evidence": [
                {
                    "id": "620806",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620806"
                },
                {
                    "id": "0070545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32288-1",
            "uniprot_ac": "P32288",
            "uniprot_id": "GLNA_YEAST",
            "refseq_ac": "NP_015360",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamine synthetase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GS",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--ammonia ligase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--ammonia ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLN1",
                    "type": "recommended"
                },
                {
                    "name": "GLN1",
                    "type": "synonym"
                },
                {
                    "name": "YP3085.01",
                    "type": "synonym"
                },
                {
                    "name": "YP9367.15",
                    "type": "synonym"
                }
            ],
            "record_id": "P32288-1",
            "evidence": [
                {
                    "id": "0070545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09606-1",
            "uniprot_ac": "P09606",
            "uniprot_id": "GLNA_RAT",
            "refseq_ac": "NP_058769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamine synthetase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.225",
                    "type": "synonym"
                },
                {
                    "name": "6.3.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GS",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--ammonia ligase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamine synthetase (glutamate-ammonia ligase)",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyltransferase GLUL",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-ammonia ligase (glutamine synthase)",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-ammonia ligase (glutamine synthetase)",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyltransferase GLUL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glul",
                    "type": "recommended"
                },
                {
                    "name": "Glns",
                    "type": "synonym"
                },
                {
                    "name": "Glul",
                    "type": "synonym"
                }
            ],
            "record_id": "P09606-1",
            "evidence": [
                {
                    "id": "0070545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20478-1",
            "uniprot_ac": "P20478",
            "uniprot_id": "GLNA2_DROME",
            "refseq_ac": "NP_001285122",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamine synthetase 2, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "6.3.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG1743-PE",
                    "type": "synonym"
                },
                {
                    "name": "GS-c",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--ammonia ligase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-ammonia ligase",
                    "type": "synonym"
                },
                {
                    "name": "Gs2-PE",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic glutamine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase 2, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gs2",
                    "type": "recommended"
                },
                {
                    "name": "CG1743",
                    "type": "synonym"
                },
                {
                    "name": "DmGS2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1743",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1743",
                    "type": "synonym"
                },
                {
                    "name": "GS2",
                    "type": "synonym"
                },
                {
                    "name": "Gs2",
                    "type": "synonym"
                },
                {
                    "name": "GsII",
                    "type": "synonym"
                },
                {
                    "name": "gs-c",
                    "type": "synonym"
                },
                {
                    "name": "gs2",
                    "type": "synonym"
                }
            ],
            "record_id": "P20478-1",
            "evidence": [
                {
                    "id": "0070545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20477-1",
            "uniprot_ac": "P20477",
            "uniprot_id": "GLNA1_DROME",
            "refseq_ac": "NP_001162839",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamine synthetase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.3.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG2718-PD",
                    "type": "synonym"
                },
                {
                    "name": "GS-m",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--ammonia ligase 1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-ammonia ligase",
                    "type": "synonym"
                },
                {
                    "name": "Gs1-PD",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase I",
                    "type": "synonym"
                },
                {
                    "name": "glutamine synthetase-1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "throng",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gs1",
                    "type": "recommended"
                },
                {
                    "name": "CG2718",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2718",
                    "type": "synonym"
                },
                {
                    "name": "GS1",
                    "type": "synonym"
                },
                {
                    "name": "GSI",
                    "type": "synonym"
                },
                {
                    "name": "Gs1",
                    "type": "synonym"
                },
                {
                    "name": "GsI",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)P52",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)throng",
                    "type": "synonym"
                },
                {
                    "name": "gs-m",
                    "type": "synonym"
                },
                {
                    "name": "gsI",
                    "type": "synonym"
                },
                {
                    "name": "l(2)21Bc",
                    "type": "synonym"
                },
                {
                    "name": "mt-gs",
                    "type": "synonym"
                },
                {
                    "name": "thg",
                    "type": "synonym"
                }
            ],
            "record_id": "P20477-1",
            "evidence": [
                {
                    "id": "0070545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32321-1",
            "uniprot_ac": "P32321",
            "uniprot_id": "DCTD_HUMAN",
            "refseq_ac": "NP_001012750",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxycytidylate deaminase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.12",
                    "type": "synonym"
                },
                {
                    "name": "dCMP deaminase",
                    "type": "synonym"
                },
                {
                    "name": "deoxycytidylate deaminase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "deoxycytidylate deaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCTD",
                    "type": "recommended"
                },
                {
                    "name": "DCTD",
                    "type": "synonym"
                }
            ],
            "record_id": "P32321-1",
            "evidence": [
                {
                    "id": "0070545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070545"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070545"
}