{
    "disease_id": "DOID:0080442",
    "recommended_name": {
        "id": "DOID:0080442",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080442",
        "name": "developmental and epileptic encephalopathy 41",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080442",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080442",
            "name": "DEE41",
            "description": ""
        },
        {
            "id": "DOID:0080442",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080442",
            "name": "early infantile epileptic encephalopathy 41",
            "description": ""
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "developmental and epileptic encephalopathy, 41",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene."
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "DEE41",
            "description": ""
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "EIEE41",
            "description": ""
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "SLC1A2 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "developmental and epileptic encephalopathy 41",
            "description": ""
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "developmental and epileptic encephalopathy, 41",
            "description": ""
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "early infantile epileptic encephalopathy caused by mutation in SLC1A2",
            "description": ""
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "epileptic encephalopathy, early infantile, 41",
            "description": ""
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "epileptic encephalopathy, early infantile, 41; EIEE41",
            "description": ""
        },
        {
            "id": "MONDO:0014916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "name": "epileptic encephalopathy, early infantile, type 41",
            "description": ""
        },
        {
            "id": "MIM:617105",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617105",
            "name": "Developmental and epileptic encephalopathy 41",
            "description": "Developmental and epileptic encephalopathy 41"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080442"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080442",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080442",
            "categories": []
        },
        {
            "id": "MONDO:0014916",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014916",
            "categories": []
        },
        {
            "id": "MIM:617105",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617105",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UZX7-1",
            "uniprot_ac": "A0A8N7UZX7",
            "uniprot_id": "A0A8N7UZX7_DANRE",
            "refseq_ac": "NP_956273",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amino acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "EAAT2a",
                    "type": "synonym"
                },
                {
                    "name": "SLC1A2a",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 2b",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1 (glial high affinity glutamate transporter), member 2b",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1 (glial high affinity glutamate transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "tnt",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc1a2b",
                    "type": "recommended"
                },
                {
                    "name": "eaat2",
                    "type": "synonym"
                },
                {
                    "name": "fj34b12",
                    "type": "synonym"
                },
                {
                    "name": "slc1a2b",
                    "type": "synonym"
                },
                {
                    "name": "slc1a2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj34b12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65897",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UZX7-1",
            "evidence": [
                {
                    "id": "0080442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43006-1",
            "uniprot_ac": "P43006",
            "uniprot_id": "EAA2_MOUSE",
            "refseq_ac": "NP_001070982",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Excitatory amino acid transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "EAAT2 variant mEAAT2/5UT2",
                    "type": "synonym"
                },
                {
                    "name": "EAAT2 variant mEAAT2/5UT5",
                    "type": "synonym"
                },
                {
                    "name": "GLT-1",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 2",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate transporter 1c",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1, member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc1a2",
                    "type": "recommended"
                },
                {
                    "name": "1700091C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900019G14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eaat2",
                    "type": "synonym"
                },
                {
                    "name": "GLT-1",
                    "type": "synonym"
                },
                {
                    "name": "GLT1",
                    "type": "synonym"
                },
                {
                    "name": "Glt1",
                    "type": "synonym"
                },
                {
                    "name": "MGLT1",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P43006-1",
            "evidence": [
                {
                    "id": "0080442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43004-1",
            "uniprot_ac": "P43004",
            "uniprot_id": "EAA2_HUMAN",
            "refseq_ac": "NP_001182657",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Excitatory amino acid transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "Glutamate/aspartate transporter II",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 2",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "excitotoxic amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate transporter-1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate/aspartate transporter II",
                    "type": "synonym"
                },
                {
                    "name": "human brain glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1 (glial high affinity glutamate transporter), member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC1A2",
                    "type": "recommended"
                },
                {
                    "name": "DEE41",
                    "type": "synonym"
                },
                {
                    "name": "EAAT2",
                    "type": "synonym"
                },
                {
                    "name": "EIEE41",
                    "type": "synonym"
                },
                {
                    "name": "GLT-1",
                    "type": "synonym"
                },
                {
                    "name": "GLT1",
                    "type": "synonym"
                },
                {
                    "name": "HBGT",
                    "type": "synonym"
                },
                {
                    "name": "SLC1A2",
                    "type": "synonym"
                }
            ],
            "record_id": "P43004-1",
            "evidence": [
                {
                    "id": "617105",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617105"
                },
                {
                    "id": "0080442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31596-1",
            "uniprot_ac": "P31596",
            "uniprot_id": "EAA2_RAT",
            "refseq_ac": "NP_001289018",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Excitatory amino acid transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "GLT-1",
                    "type": "synonym"
                },
                {
                    "name": "GLUT-R",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent glutamate/aspartate transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 2",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 2 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "glial glutamate transporter GLT1/V1",
                    "type": "synonym"
                },
                {
                    "name": "glial glutamate transporter GLT1/V2",
                    "type": "synonym"
                },
                {
                    "name": "glial glutamate transporter GLT1/V3",
                    "type": "synonym"
                },
                {
                    "name": "glial glutamate transporter GLT1/V4",
                    "type": "synonym"
                },
                {
                    "name": "glutamate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "high affinity glucose transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate/aspartate transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1 (glial high affinity glutamate transporter), member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc1a2",
                    "type": "recommended"
                },
                {
                    "name": "Eaat2",
                    "type": "synonym"
                },
                {
                    "name": "Glt-1",
                    "type": "synonym"
                },
                {
                    "name": "Glt1",
                    "type": "synonym"
                },
                {
                    "name": "Glt",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P31596-1",
            "evidence": [
                {
                    "id": "0080442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JHQ6-1",
            "uniprot_ac": "E1JHQ6",
            "uniprot_id": "E1JHQ6_DROME",
            "refseq_ac": "NP_001162844",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amino acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG3159-PC",
                    "type": "synonym"
                },
                {
                    "name": "Eaat2-PC",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent excitatory amino acid transporter 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eaat2",
                    "type": "recommended"
                },
                {
                    "name": "CG3159",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3159",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3159",
                    "type": "synonym"
                },
                {
                    "name": "EAAT2",
                    "type": "synonym"
                },
                {
                    "name": "EAAT",
                    "type": "synonym"
                },
                {
                    "name": "Eaat 2",
                    "type": "synonym"
                },
                {
                    "name": "Eaat2",
                    "type": "synonym"
                },
                {
                    "name": "dEAAT2",
                    "type": "synonym"
                },
                {
                    "name": "dEaat2",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JHQ6-1",
            "evidence": [
                {
                    "id": "0080442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09769-1",
            "uniprot_ac": "P09769",
            "uniprot_id": "FGR_HUMAN",
            "refseq_ac": "NP_001036194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase Fgr",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Fgr",
                    "type": "synonym"
                },
                {
                    "name": "c-fgr protooncogene",
                    "type": "synonym"
                },
                {
                    "name": "c-src-2 proto-oncogene",
                    "type": "synonym"
                },
                {
                    "name": "p55-Fgr",
                    "type": "synonym"
                },
                {
                    "name": "p55-c-fgr protein",
                    "type": "synonym"
                },
                {
                    "name": "p58-Fgr",
                    "type": "synonym"
                },
                {
                    "name": "p58c-Fgr",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Fgr",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase FGR",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase Fgr",
                    "type": "synonym"
                },
                {
                    "name": "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGR",
                    "type": "recommended"
                },
                {
                    "name": "FGR",
                    "type": "synonym"
                },
                {
                    "name": "SRC2",
                    "type": "synonym"
                },
                {
                    "name": "c-fgr",
                    "type": "synonym"
                },
                {
                    "name": "c-src2",
                    "type": "synonym"
                },
                {
                    "name": "p55-Fgr",
                    "type": "synonym"
                },
                {
                    "name": "p55c-fgr",
                    "type": "synonym"
                },
                {
                    "name": "p58-Fgr",
                    "type": "synonym"
                },
                {
                    "name": "p58c-fgr",
                    "type": "synonym"
                }
            ],
            "record_id": "P09769-1",
            "evidence": [
                {
                    "id": "0080442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080442"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080442"
}