{
    "disease_id": "DOID:0060484",
    "recommended_name": {
        "id": "DOID:0060484",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060484",
        "name": "EAST syndrome",
        "description": "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060484",
            "name": "SeSAME syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060484",
            "name": "epilepsy, ataxia, sensorineural deafness and tubulopathy",
            "description": ""
        },
        {
            "id": "DOID:0060484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060484",
            "name": "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance",
            "description": ""
        },
        {
            "id": "MONDO:0013005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "name": "EAST syndrome",
            "description": "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)."
        },
        {
            "id": "MONDO:0013005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "name": "EAST syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "name": "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance",
            "description": ""
        },
        {
            "id": "MONDO:0013005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "name": "seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "name": "sesame syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "name": "SESAMES",
            "description": ""
        },
        {
            "id": "MONDO:0013005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "name": "seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance",
            "description": ""
        },
        {
            "id": "MONDO:0013005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "name": "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance",
            "description": ""
        },
        {
            "id": "MONDO:0013005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "name": "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance",
            "description": ""
        },
        {
            "id": "MIM:612780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612780",
            "name": "Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance",
            "description": "Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060484"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060484",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060484",
            "categories": []
        },
        {
            "id": "MONDO:0013005",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013005",
            "categories": []
        },
        {
            "id": "MIM:612780",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612780",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FD27-1",
            "uniprot_ac": "E7FD27",
            "uniprot_id": "E7FD27_DANRE",
            "refseq_ac": "XP_003198936",
            "glycoprotein": "yes",
            "species": [
                {
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "kcnj10a",
                    "type": "recommended"
                },
                {
                    "name": "kcnj10a",
                    "type": "synonym"
                }
            ],
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                    "id": "0060484",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060484"
                }
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            "uniprot_canonical_ac": "A0AC58HF78-1",
            "uniprot_ac": "A0AC58HF78",
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                }
            ],
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                {
                    "name": "G protein-activated inward rectifier potassium channel 3",
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                },
                {
                    "name": "Inward rectifier K(+) channel Kir3.3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnj14",
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                },
                {
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                }
            ],
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                }
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                {
                    "name": "ATP-sensitive inward rectifier potassium channel 12",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "kcnj12b",
                    "type": "recommended"
                },
                {
                    "name": "kcnj12b",
                    "type": "synonym"
                }
            ],
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                    "id": "0060484",
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            ]
        },
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            "uniprot_canonical_ac": "Q9JM63-1",
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
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                }
            ],
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                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
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                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir4.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 10",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir4.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Kcnj10",
                    "type": "recommended"
                },
                {
                    "name": "BIR10",
                    "type": "synonym"
                },
                {
                    "name": "BIRK-1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj10",
                    "type": "synonym"
                },
                {
                    "name": "Kir1.2",
                    "type": "synonym"
                },
                {
                    "name": "Kir4.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JM63-1",
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                    "id": "0060484",
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                }
            ]
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            "uniprot_canonical_ac": "Q8JZN3-1",
            "uniprot_ac": "Q8JZN3",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "ATP-sensitive inward rectifier potassium channel 14",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 14",
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                },
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                    "name": "IRK-4",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.4",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 14",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir2.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj14",
                    "type": "recommended"
                },
                {
                    "name": "A930026G01Rik",
                    "type": "synonym"
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                    "name": "IRK4",
                    "type": "synonym"
                },
                {
                    "name": "Irk4",
                    "type": "synonym"
                },
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                    "name": "Kcnj14",
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                },
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            ],
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                {
                    "id": "0060484",
                    "database": "AGR",
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                }
            ]
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            "uniprot_canonical_ac": "Q9Z307-1",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 16",
                    "type": "recommended"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir5.1",
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                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 16",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir5.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 16",
                    "type": "synonym"
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                    "name": "potassium channel, inwardly rectifying subfamily J member 16",
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            ],
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                {
                    "name": "6430410F18Rik",
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                    "name": "Kcnj16",
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                    "id": "0060484",
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            "uniprot_canonical_ac": "P35561-1",
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                }
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                    "name": "Inward rectifier potassium channel 2",
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                    "name": "Kcnj2",
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                    "glygen_name": "Mouse",
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                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 12",
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                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 12 isoform 2",
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                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 12",
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                },
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                },
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                    "name": "Kcnj12",
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                    "id": "0060484",
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        {
            "uniprot_canonical_ac": "P52189-1",
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                }
            ],
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                    "name": "Inward rectifier potassium channel 4",
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                {
                    "name": "Inward rectifier K(+) channel Kir2.3",
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                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 4",
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                }
            ],
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "ATP-sensitive inward rectifier potassium channel 10",
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                    "name": "Inward rectifier K(+) channel Kir1.2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 10",
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            ],
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                    "name": "KCNJ10",
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                    "id": "612780",
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                },
                {
                    "id": "0060484",
                    "database": "AGR",
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                }
            ]
        },
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
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                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 10",
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                    "name": "Brain-specific inwardly rectifying K(+) channel 1",
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                {
                    "name": "Inward rectifier K(+) channel Kir4.1",
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                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 10",
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                {
                    "name": "brain-specific inwardly rectifying K(+) channel 1",
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                    "name": "inward rectifier K(+) channel Kir4.1",
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                },
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                    "name": "kir4.1",
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                    "name": "potassium channel, inwardly rectifying subfamily J member 10",
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                {
                    "name": "KCNJ16",
                    "type": "synonym"
                },
                {
                    "name": "KIR5.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPI9-1",
            "evidence": [
                {
                    "id": "0060484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14500-1",
            "uniprot_ac": "Q14500",
            "uniprot_id": "KCJ12_HUMAN",
            "refseq_ac": "NP_066292",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 12",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 12",
                    "type": "synonym"
                },
                {
                    "name": "IRK-2",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.2v",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 12",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J, member 12",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNJ12",
                    "type": "recommended"
                },
                {
                    "name": "IRK-2",
                    "type": "synonym"
                },
                {
                    "name": "IRK2",
                    "type": "synonym"
                },
                {
                    "name": "KCNJ12",
                    "type": "synonym"
                },
                {
                    "name": "KCNJN1",
                    "type": "synonym"
                },
                {
                    "name": "Kir2.2",
                    "type": "synonym"
                },
                {
                    "name": "hIRK1",
                    "type": "synonym"
                },
                {
                    "name": "hIRK",
                    "type": "synonym"
                },
                {
                    "name": "hkir2.2x",
                    "type": "synonym"
                },
                {
                    "name": "kcnj12x",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14500-1",
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                {
                    "id": "0060484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UNX9-1",
            "uniprot_ac": "Q9UNX9",
            "uniprot_id": "KCJ14_HUMAN",
            "refseq_ac": "NP_037480",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 14",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 14",
                    "type": "synonym"
                },
                {
                    "name": "IRK-4",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.4",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 14",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir2.4",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel KIR2.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 14",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNJ14",
                    "type": "recommended"
                },
                {
                    "name": "IRK4",
                    "type": "synonym"
                },
                {
                    "name": "KCNJ14",
                    "type": "synonym"
                },
                {
                    "name": "KIR2.4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UNX9-1",
            "evidence": [
                {
                    "id": "0060484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060484"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060484"
}