{
    "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": []
}