{
    "disease_id": "DOID:0080460",
    "recommended_name": {
        "id": "DOID:0080460",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080460",
        "name": "developmental and epileptic encephalopathy 34",
        "description": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12."
    },
    "synonyms": [
        {
            "id": "DOID:0080460",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080460",
            "name": "DEE34",
            "description": ""
        },
        {
            "id": "DOID:0080460",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080460",
            "name": "early infantile epileptic encephalopathy 34",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "developmental and epileptic encephalopathy, 34",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene."
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "DEE34",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "EIEE34",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "SLC12A5 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "developmental and epileptic encephalopathy 34",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "early infantile epileptic encephalopathy caused by mutation in SLC12A5",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "epileptic encephalopathy, early infantile, 34",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "epileptic encephalopathy, early infantile, 34; EIEE34",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "epileptic encephalopathy, early infantile, type 34",
            "description": ""
        },
        {
            "id": "MIM:616645",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616645",
            "name": "Developmental and epileptic encephalopathy 34",
            "description": "Developmental and epileptic encephalopathy 34"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080460"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080460",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080460",
            "categories": []
        },
        {
            "id": "MONDO:0014718",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "categories": []
        },
        {
            "id": "MIM:616645",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616645",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M3B534",
            "uniprot_id": "A0A8M3B534_DANRE",
            "refseq_ac": "XP_009302423",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 5b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 5b isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "slc12a5b",
                    "type": "recommended"
                },
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                    "name": "kcc2b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-253e7.2",
                    "type": "synonym"
                },
                {
                    "name": "slc12a5b",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080460"
                }
            ]
        },
        {
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            "uniprot_ac": "A0AC58JWE2",
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            "refseq_ac": "XP_073810821",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Solute carrier family 12 member 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc12a5a",
                    "type": "recommended"
                },
                {
                    "name": "slc12a5a",
                    "type": "synonym"
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            ],
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                    "id": "0080460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91V14-1",
            "uniprot_ac": "Q91V14",
            "uniprot_id": "S12A5_MOUSE",
            "refseq_ac": "NP_065066",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Solute carrier family 12 member 5",
                    "type": "recommended"
                },
                {
                    "name": "Electroneutral potassium-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "K-Cl cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "electroneutral potassium-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "mKCC2",
                    "type": "synonym"
                },
                {
                    "name": "neuronal K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 5 isoform 3",
                    "type": "synonym"
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            ],
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                {
                    "name": "Slc12a5",
                    "type": "recommended"
                },
                {
                    "name": "KCC2",
                    "type": "synonym"
                },
                {
                    "name": "Kcc2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1176",
                    "type": "synonym"
                },
                {
                    "name": "Slc12a5",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1176",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91V14-1",
            "evidence": [
                {
                    "id": "0080460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2X9-1",
            "uniprot_ac": "Q9H2X9",
            "uniprot_id": "S12A5_HUMAN",
            "refseq_ac": "NP_001128243",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Solute carrier family 12 member 5",
                    "type": "recommended"
                },
                {
                    "name": "Electroneutral potassium-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "K-Cl cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "electroneutral potassium-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "erythroid K-Cl cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "hKCC2",
                    "type": "synonym"
                },
                {
                    "name": "neuronal K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (potassium/chloride transporter), member 5",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 5 isoform 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "SLC12A5",
                    "type": "recommended"
                },
                {
                    "name": "DEE34",
                    "type": "synonym"
                },
                {
                    "name": "EIEE34",
                    "type": "synonym"
                },
                {
                    "name": "EIG14",
                    "type": "synonym"
                },
                {
                    "name": "KCC2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1176",
                    "type": "synonym"
                },
                {
                    "name": "SLC12A5",
                    "type": "synonym"
                },
                {
                    "name": "hKCC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2X9-1",
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                {
                    "id": "616645",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616645"
                },
                {
                    "id": "0080460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63633-1",
            "uniprot_ac": "Q63633",
            "uniprot_id": "S12A5_RAT",
            "refseq_ac": "NP_599190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Solute carrier family 12 member 5",
                    "type": "recommended"
                },
                {
                    "name": "Electroneutral potassium-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Furosemide-sensitive K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "K-Cl cotransporter 2",
                    "type": "synonym"
                },
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                    "name": "Neuronal K-Cl cotransporter",
                    "type": "synonym"
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                {
                    "name": "electroneutral potassium-chloride cotransporter 2",
                    "type": "synonym"
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                    "name": "furosemide-sensitive K-Cl cotransporter",
                    "type": "synonym"
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                {
                    "name": "neuronal K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "neuronal-specific K-Cl cotransporter",
                    "type": "synonym"
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                    "name": "rKCC2",
                    "type": "synonym"
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                {
                    "name": "solute carrier family 12 (potassium-chloride transporter), member 5",
                    "type": "synonym"
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                {
                    "name": "solute carrier family 12 member 5 isoform 2",
                    "type": "synonym"
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            ],
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                {
                    "name": "Slc12a5",
                    "type": "recommended"
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                    "name": "Kcc2",
                    "type": "synonym"
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                    "name": "Slc12a5",
                    "type": "synonym"
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                    "id": "0080460",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080460"
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            "uniprot_canonical_ac": "A0A0B4LGD3-1",
            "uniprot_ac": "A0A0B4LGD3",
            "uniprot_id": "A0A0B4LGD3_DROME",
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            "species": [
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                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG5594-PG",
                    "type": "synonym"
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                {
                    "name": "E(sda)J",
                    "type": "synonym"
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                {
                    "name": "Kazachoc, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "kazachoc, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "kcc-PG",
                    "type": "synonym"
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                {
                    "name": "lethal (2) 60A-C",
                    "type": "synonym"
                }
            ],
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                    "name": "kcc",
                    "type": "recommended"
                },
                {
                    "name": "2R8",
                    "type": "synonym"
                },
                {
                    "name": "BEST:CK01510",
                    "type": "synonym"
                },
                {
                    "name": "CG2768",
                    "type": "synonym"
                },
                {
                    "name": "CG5594",
                    "type": "synonym"
                },
                {
                    "name": "CK01510",
                    "type": "synonym"
                },
                {
                    "name": "DmKCC",
                    "type": "synonym"
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                {
                    "name": "Dmel\\CG5594",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5594",
                    "type": "synonym"
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                {
                    "name": "E(sda)J",
                    "type": "synonym"
                },
                {
                    "name": "KCC",
                    "type": "synonym"
                },
                {
                    "name": "Kcc",
                    "type": "synonym"
                },
                {
                    "name": "Line J",
                    "type": "synonym"
                },
                {
                    "name": "kcc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)60A-C",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_17605",
                    "type": "synonym"
                }
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                {
                    "id": "0080460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080460"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080460"
}