{
    "disease_id": "DOID:0081119",
    "recommended_name": {
        "id": "DOID:0081119",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081119",
        "name": "obsolete benign familial infantile seizures 6",
        "description": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21."
    },
    "synonyms": [
        {
            "id": "DOID:0081119",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081119",
            "name": "Autosomal dominant nocturnal frontal lobe epilepsy",
            "description": ""
        },
        {
            "id": "DOID:0081119",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081119",
            "name": "Benign Familial Infantile Seizures, 6",
            "description": ""
        },
        {
            "id": "DOID:0081119",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081119",
            "name": "nocturnal frontal lobe epilepsy-4",
            "description": ""
        },
        {
            "id": "MONDO:0012474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012474",
            "name": "autosomal dominant nocturnal frontal lobe epilepsy 4",
            "description": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene."
        },
        {
            "id": "MONDO:0012474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012474",
            "name": "CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012474",
            "name": "ENFL4",
            "description": ""
        },
        {
            "id": "MONDO:0012474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012474",
            "name": "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2",
            "description": ""
        },
        {
            "id": "MONDO:0012474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012474",
            "name": "autosomal dominant nocturnal frontal lobe epilepsy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012474",
            "name": "epilepsy, nocturnal frontal lobe, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012474",
            "name": "epilepsy, nocturnal frontal lobe, 4",
            "description": ""
        },
        {
            "id": "MIM:610353",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610353",
            "name": "Epilepsy, nocturnal frontal lobe, 4",
            "description": "Epilepsy, nocturnal frontal lobe, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081119"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081119",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081119",
            "categories": []
        },
        {
            "id": "MONDO:0012474",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012474",
            "categories": []
        },
        {
            "id": "MIM:610353",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610353",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q15822-1",
            "uniprot_ac": "Q15822",
            "uniprot_id": "ACHA2_HUMAN",
            "refseq_ac": "NP_000733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuronal acetylcholine receptor subunit alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Nicotinic acetylcholine receptor subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor, nicotinic, alpha 2 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, alpha 2 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor subunit alpha-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHRNA2",
                    "type": "recommended"
                },
                {
                    "name": "CHRNA2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15822-1",
            "evidence": [
                {
                    "id": "610353",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610353"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081119"
}