{
    "disease_id": "DOID:0112207",
    "recommended_name": {
        "id": "DOID:0112207",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112207",
        "name": "developmental and epileptic encephalopathy 71",
        "description": "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2."
    },
    "synonyms": [
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112207",
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        },
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            "url": "https://disease-ontology.org/term/DOID:0112207",
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            "description": ""
        },
        {
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112207",
            "name": "glutaminase deficiency with neonatal epileptic encephalopathy",
            "description": ""
        },
        {
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            "name": "developmental and epileptic encephalopathy, 71",
            "description": ""
        },
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        },
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        },
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        },
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            "description": ""
        },
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            "description": ""
        },
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            "url": "https://www.omim.org/entry/618328",
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        }
    ],
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        },
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            "categories": []
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                    "name": "Glutaminase liver isoform, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GLS",
                    "type": "synonym"
                },
                {
                    "name": "L-glutaminase",
                    "type": "synonym"
                },
                {
                    "name": "L-glutamine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "breast cell glutaminase",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase 2 (liver, mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase I",
                    "type": "synonym"
                },
                {
                    "name": "glutaminase liver isoform, mitochondrial isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "phosphate-activated glutaminase",
                    "type": "synonym"
                },
                {
                    "name": "phosphate-dependent glutaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLS2",
                    "type": "recommended"
                },
                {
                    "name": "GA",
                    "type": "synonym"
                },
                {
                    "name": "GLS2",
                    "type": "synonym"
                },
                {
                    "name": "GLS",
                    "type": "synonym"
                },
                {
                    "name": "LGA",
                    "type": "synonym"
                },
                {
                    "name": "hLGA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI32-1",
            "evidence": [
                {
                    "id": "0112207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112207"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112207"
}