{
    "disease_id": "DOID:0080440",
    "recommended_name": {
        "id": "DOID:0080440",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080440",
        "name": "developmental and epileptic encephalopathy 3",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0080440",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080440",
            "name": "early infantile epileptic encephalopathy 3",
            "description": ""
        },
        {
            "id": "MONDO:0012245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012245",
            "name": "developmental and epileptic encephalopathy, 3",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene."
        },
        {
            "id": "MONDO:0012245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012245",
            "name": "DEE3",
            "description": ""
        },
        {
            "id": "MONDO:0012245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012245",
            "name": "EIEE3",
            "description": ""
        },
        {
            "id": "MONDO:0012245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012245",
            "name": "SLC25A22 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012245",
            "name": "developmental and epileptic encephalopathy 3",
            "description": ""
        },
        {
            "id": "MONDO:0012245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012245",
            "name": "early infantile epileptic encephalopathy caused by mutation in SLC25A22",
            "description": ""
        },
        {
            "id": "MONDO:0012245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012245",
            "name": "epileptic encephalopathy, early infantile, 3",
            "description": ""
        },
        {
            "id": "MONDO:0012245",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012245",
            "name": "epileptic encephalopathy, early infantile, type 3",
            "description": ""
        },
        {
            "id": "MIM:609304",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609304",
            "name": "Developmental and epileptic encephalopathy 3",
            "description": "Developmental and epileptic encephalopathy 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080440"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080440",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080440",
            "categories": []
        },
        {
            "id": "MONDO:0012245",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012245",
            "categories": []
        },
        {
            "id": "MIM:609304",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609304",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W494-1",
            "uniprot_ac": "F8W494",
            "uniprot_id": "F8W494_DANRE",
            "refseq_ac": "XP_001922072",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glutamate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "Glutamate/H(+) symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 22",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamate carrier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a22a",
                    "type": "recommended"
                },
                {
                    "name": "slc25a22a",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W494-1",
            "evidence": [
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                    "id": "0080440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080440"
                }
            ]
        },
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            "uniprot_ac": "F8W3S7",
            "uniprot_id": "F8W3S7_DANRE",
            "refseq_ac": "XP_009301224",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Mitochondrial glutamate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "Glutamate/H(+) symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 22",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamate carrier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a22b",
                    "type": "recommended"
                },
                {
                    "name": "slc25a22b",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W3S7-1",
            "evidence": [
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                    "id": "0080440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D6M3-1",
            "uniprot_ac": "Q9D6M3",
            "uniprot_id": "GHC1_MOUSE",
            "refseq_ac": "NP_001171047",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glutamate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "GC-1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate/H(+) symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 22",
                    "type": "synonym"
                },
                {
                    "name": "glutamate/H(+) symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamate carrier 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a22",
                    "type": "recommended"
                },
                {
                    "name": "1300006L01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gc1",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a22",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H936-1",
            "uniprot_ac": "Q9H936",
            "uniprot_id": "GHC1_HUMAN",
            "refseq_ac": "NP_001177989",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glutamate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "Early infantile epileptic encephalopathy 3",
                    "type": "synonym"
                },
                {
                    "name": "GC-1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate/H(+) symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 22",
                    "type": "synonym"
                },
                {
                    "name": "glutamate/H(+) symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamate carrier 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier: glutamate), member 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A22",
                    "type": "recommended"
                },
                {
                    "name": "DEE3",
                    "type": "synonym"
                },
                {
                    "name": "EIEE3",
                    "type": "synonym"
                },
                {
                    "name": "GC-1",
                    "type": "synonym"
                },
                {
                    "name": "GC1",
                    "type": "synonym"
                },
                {
                    "name": "NET44",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H936-1",
            "evidence": [
                {
                    "id": "609304",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609304"
                },
                {
                    "id": "0080440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K5L2-1",
            "uniprot_ac": "A0A0G2K5L2",
            "uniprot_id": "GHC1_RAT",
            "refseq_ac": "NP_001014049",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glutamate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "GC-1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate/H(+) symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 22",
                    "type": "synonym"
                },
                {
                    "name": "glutamate/H(+) symporter 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamate carrier 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamate carrier 1-like",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier, glutamate), member 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a22",
                    "type": "recommended"
                },
                {
                    "name": "GC-1",
                    "type": "synonym"
                },
                {
                    "name": "GC1",
                    "type": "synonym"
                },
                {
                    "name": "Gc1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307826",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a22",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K5L2-1",
            "evidence": [
                {
                    "id": "0080440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INJ3-1",
            "uniprot_ac": "Q8INJ3",
            "uniprot_id": "Q8INJ3_DROME",
            "refseq_ac": "NP_731657",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glutamate carrier 2",
                    "type": "recommended"
                },
                {
                    "name": "CG12201-PB",
                    "type": "synonym"
                },
                {
                    "name": "GC2-PB",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate/H(+) symporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 18",
                    "type": "synonym"
                },
                {
                    "name": "glutamate carrier 2, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GC2",
                    "type": "recommended"
                },
                {
                    "name": "CG12201",
                    "type": "synonym"
                },
                {
                    "name": "DmGC2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12201",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12201",
                    "type": "synonym"
                },
                {
                    "name": "GC2",
                    "type": "synonym"
                }
            ],
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                    "id": "0080440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGF7-1",
            "uniprot_ac": "Q9VGF7",
            "uniprot_id": "Q9VGF7_DROME",
            "refseq_ac": "NP_001262490",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial glutamate carrier 2",
                    "type": "recommended"
                },
                {
                    "name": "CG18347-PB",
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                },
                {
                    "name": "GC1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate/H(+) symporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 18",
                    "type": "synonym"
                },
                {
                    "name": "anon-87Ac",
                    "type": "synonym"
                },
                {
                    "name": "glutamate carrier 1, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GC1",
                    "type": "recommended"
                },
                {
                    "name": "4",
                    "type": "synonym"
                },
                {
                    "name": "87A7-9/4",
                    "type": "synonym"
                },
                {
                    "name": "CG18347",
                    "type": "synonym"
                },
                {
                    "name": "DmGC1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18347",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG18347",
                    "type": "synonym"
                },
                {
                    "name": "GC1",
                    "type": "synonym"
                },
                {
                    "name": "anon-87Ac",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080440"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080440"
}