{
    "disease_id": "DOID:0060754",
    "recommended_name": {
        "id": "DOID:0060754",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060754",
        "name": "familial temporal lobe epilepsy 8",
        "description": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060754",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060754",
            "name": "ETL8",
            "description": ""
        },
        {
            "id": "MONDO:0014650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014650",
            "name": "familial temporal lobe epilepsy 8",
            "description": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13."
        },
        {
            "id": "MONDO:0014650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014650",
            "name": "ETL8",
            "description": ""
        },
        {
            "id": "MONDO:0014650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014650",
            "name": "epilepsy, familial temporal lobe, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014650",
            "name": "familial temporal lobe epilepsy type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014650",
            "name": "epilepsy, familial temporal lobe, 8",
            "description": ""
        },
        {
            "id": "MIM:616461",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616461",
            "name": "Epilepsy, familial temporal lobe, 8",
            "description": "Epilepsy, familial temporal lobe, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060754"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060754",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060754",
            "categories": []
        },
        {
            "id": "MONDO:0014650",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014650",
            "categories": []
        },
        {
            "id": "MIM:616461",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616461",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7EZ53-1",
            "uniprot_ac": "E7EZ53",
            "uniprot_id": "GALA_DANRE",
            "refseq_ac": "NP_001333168",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galanin peptides",
                    "type": "recommended"
                },
                {
                    "name": "Galanin peptides",
                    "type": "synonym"
                },
                {
                    "name": "galanin peptides preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gal",
                    "type": "recommended"
                },
                {
                    "name": "galn",
                    "type": "synonym"
                },
                {
                    "name": "gal",
                    "type": "synonym"
                },
                {
                    "name": "ppg",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EZ53-1",
            "evidence": [
                {
                    "id": "0060754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060754"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47212-1",
            "uniprot_ac": "P47212",
            "uniprot_id": "GALA_MOUSE",
            "refseq_ac": "NP_034383",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galanin peptides",
                    "type": "recommended"
                },
                {
                    "name": "galanin peptides isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "galanin peptides",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gal",
                    "type": "recommended"
                },
                {
                    "name": "Galn",
                    "type": "synonym"
                },
                {
                    "name": "Gal",
                    "type": "synonym"
                }
            ],
            "record_id": "P47212-1",
            "evidence": [
                {
                    "id": "0060754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060754"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22466-1",
            "uniprot_ac": "P22466",
            "uniprot_id": "GALA_HUMAN",
            "refseq_ac": "NP_057057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galanin peptides",
                    "type": "recommended"
                },
                {
                    "name": "galanin peptides preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "galanin peptides",
                    "type": "synonym"
                },
                {
                    "name": "galanin prepropeptide",
                    "type": "synonym"
                },
                {
                    "name": "galanin-message-associated peptide",
                    "type": "synonym"
                },
                {
                    "name": "galanin-related peptide",
                    "type": "synonym"
                },
                {
                    "name": "galanin/GMAP prepropeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAL",
                    "type": "recommended"
                },
                {
                    "name": "ETL8",
                    "type": "synonym"
                },
                {
                    "name": "GAL-GMAP",
                    "type": "synonym"
                },
                {
                    "name": "GAL1",
                    "type": "synonym"
                },
                {
                    "name": "GALN",
                    "type": "synonym"
                },
                {
                    "name": "GAL",
                    "type": "synonym"
                },
                {
                    "name": "GLNN",
                    "type": "synonym"
                },
                {
                    "name": "GMAP",
                    "type": "synonym"
                }
            ],
            "record_id": "P22466-1",
            "evidence": [
                {
                    "id": "616461",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616461"
                },
                {
                    "id": "0060754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060754"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10683-1",
            "uniprot_ac": "P10683",
            "uniprot_id": "GALA_RAT",
            "refseq_ac": "NP_150240",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galanin peptides",
                    "type": "recommended"
                },
                {
                    "name": "galanin peptides preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "galanin peptides",
                    "type": "synonym"
                },
                {
                    "name": "galanin prepropeptide",
                    "type": "synonym"
                },
                {
                    "name": "galanin/GMAP prepropeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gal",
                    "type": "recommended"
                },
                {
                    "name": "Galn",
                    "type": "synonym"
                },
                {
                    "name": "Gal",
                    "type": "synonym"
                }
            ],
            "record_id": "P10683-1",
            "evidence": [
                {
                    "id": "0060754",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060754"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060754"
}