{
    "disease_id": "DOID:0111305",
    "recommended_name": {
        "id": "DOID:0111305",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111305",
        "name": "familial febrile seizures 4",
        "description": "A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111305",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111305",
            "name": "FEB4",
            "description": ""
        },
        {
            "id": "DOID:0111305",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111305",
            "name": "familial febrile convulsions 4",
            "description": ""
        },
        {
            "id": "MONDO:0011443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011443",
            "name": "febrile seizures, familial, 4",
            "description": "Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene."
        },
        {
            "id": "MONDO:0011443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011443",
            "name": "ADGRV1 febrile seizures, familial",
            "description": ""
        },
        {
            "id": "MONDO:0011443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011443",
            "name": "febrile seizures, familial caused by mutation in ADGRV1",
            "description": ""
        },
        {
            "id": "MONDO:0011443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011443",
            "name": "febrile seizures, familial, 4",
            "description": ""
        },
        {
            "id": "MONDO:0011443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011443",
            "name": "febrile seizures, familial, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011443",
            "name": "FEB4",
            "description": ""
        },
        {
            "id": "MIM:604352",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604352",
            "name": "Febrile seizures, familial, 4",
            "description": "Febrile seizures, familial, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111305"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111305",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111305",
            "categories": []
        },
        {
            "id": "MONDO:0011443",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011443",
            "categories": []
        },
        {
            "id": "MIM:604352",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604352",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6JAN0-1",
            "uniprot_ac": "Q6JAN0",
            "uniprot_id": "AGRV1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor V1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 98",
                    "type": "synonym"
                },
                {
                    "name": "Monogenic audiogenic seizure susceptibility protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Very large G protein-coupled receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adgrv1",
                    "type": "recommended"
                },
                {
                    "name": "gpr98",
                    "type": "synonym"
                },
                {
                    "name": "mass1",
                    "type": "synonym"
                },
                {
                    "name": "vlgr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6JAN0-1",
            "evidence": [
                {
                    "id": "0111305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111305"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VHN7-1",
            "uniprot_ac": "Q8VHN7",
            "uniprot_id": "AGRV1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor V1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "ADGRV1",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 98",
                    "type": "synonym"
                },
                {
                    "name": "MASS1",
                    "type": "synonym"
                },
                {
                    "name": "Monogenic audiogenic seizure susceptibility protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Neurepin",
                    "type": "synonym"
                },
                {
                    "name": "Protein rueda",
                    "type": "synonym"
                },
                {
                    "name": "VLGR1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "VLGR1",
                    "type": "synonym"
                },
                {
                    "name": "Vbeta",
                    "type": "synonym"
                },
                {
                    "name": "Very large G protein-coupled receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adgrv1",
                    "type": "recommended"
                },
                {
                    "name": "Gpr98",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0686",
                    "type": "synonym"
                },
                {
                    "name": "Mass1",
                    "type": "synonym"
                },
                {
                    "name": "Vlgr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHN7-1",
            "evidence": [
                {
                    "id": "0111305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111305"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXG9-1",
            "uniprot_ac": "Q8WXG9",
            "uniprot_id": "AGRV1_HUMAN",
            "refseq_ac": "NP_115495",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor V1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "ADGRV1",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 98",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 98",
                    "type": "synonym"
                },
                {
                    "name": "Monogenic audiogenic seizure susceptibility protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-2C protein",
                    "type": "synonym"
                },
                {
                    "name": "Very large G protein-coupled receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor V1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "monogenic audiogenic seizure susceptibility protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-2C protein",
                    "type": "synonym"
                },
                {
                    "name": "very large G-protein coupled receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADGRV1",
                    "type": "recommended"
                },
                {
                    "name": "ADGRV1",
                    "type": "synonym"
                },
                {
                    "name": "FEB4",
                    "type": "synonym"
                },
                {
                    "name": "GPR98",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0686",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1943",
                    "type": "synonym"
                },
                {
                    "name": "MASS1",
                    "type": "synonym"
                },
                {
                    "name": "USH2B",
                    "type": "synonym"
                },
                {
                    "name": "USH2C",
                    "type": "synonym"
                },
                {
                    "name": "VLGR1b",
                    "type": "synonym"
                },
                {
                    "name": "VLGR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXG9-1",
            "evidence": [
                {
                    "id": "604352",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604352"
                },
                {
                    "id": "0111305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111305"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MK89-1",
            "uniprot_ac": "A0A096MK89",
            "uniprot_id": "A0A096MK89_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G-protein coupled receptor V1",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor 98",
                    "type": "synonym"
                },
                {
                    "name": "Very large G-protein coupled receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adgrv1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A096MK89-1",
            "evidence": [
                {
                    "id": "0111305",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111305"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111305"
}