{
    "disease_id": "DOID:0111322",
    "recommended_name": {
        "id": "DOID:0111322",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111322",
        "name": "obsolete idiopathic generalized epilepsy 8",
        "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 8",
            "description": "Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene."
        },
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "CASR generalised epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "CASR generalized epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "epilepsy idiopathic generalized, susceptibility to, 8",
            "description": ""
        },
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 8",
            "description": ""
        },
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "epilepsy, idiopathic generalized, susceptibility to, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "generalised epilepsy caused by mutation in CASR",
            "description": ""
        },
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "generalized epilepsy caused by mutation in CASR",
            "description": ""
        },
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "EIG8",
            "description": ""
        },
        {
            "id": "MONDO:0013032",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "name": "susceptibility to idiopathic generalised epilepsy 8",
            "description": ""
        },
        {
            "id": "MIM:612899",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612899",
            "name": "Epilepsy, idiopathic generalized 8",
            "description": "Epilepsy, idiopathic generalized 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111322"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111322",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111322",
            "categories": []
        },
        {
            "id": "MONDO:0013032",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013032",
            "categories": []
        },
        {
            "id": "MIM:612899",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612899",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P41180-1",
            "uniprot_ac": "P41180",
            "uniprot_id": "CASR_HUMAN",
            "refseq_ac": "NP_001171536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Extracellular calcium-sensing receptor",
                    "type": "recommended"
                },
                {
                    "name": "CaR",
                    "type": "synonym"
                },
                {
                    "name": "CaSR",
                    "type": "synonym"
                },
                {
                    "name": "PCaR1",
                    "type": "synonym"
                },
                {
                    "name": "Parathyroid cell calcium-sensing receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "extracellular calcium-sensing receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "extracellular calcium-sensing receptor",
                    "type": "synonym"
                },
                {
                    "name": "hCasR",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid Ca(2+)-sensing receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "parathyroid cell calcium-sensing receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CASR",
                    "type": "recommended"
                },
                {
                    "name": "CAR",
                    "type": "synonym"
                },
                {
                    "name": "CASR",
                    "type": "synonym"
                },
                {
                    "name": "EIG8",
                    "type": "synonym"
                },
                {
                    "name": "FHH",
                    "type": "synonym"
                },
                {
                    "name": "FIH",
                    "type": "synonym"
                },
                {
                    "name": "GPRC2A",
                    "type": "synonym"
                },
                {
                    "name": "HHC1",
                    "type": "synonym"
                },
                {
                    "name": "HHC",
                    "type": "synonym"
                },
                {
                    "name": "HYPOC1",
                    "type": "synonym"
                },
                {
                    "name": "NSHPT",
                    "type": "synonym"
                },
                {
                    "name": "PCAR1",
                    "type": "synonym"
                },
                {
                    "name": "hCasR",
                    "type": "synonym"
                }
            ],
            "record_id": "P41180-1",
            "evidence": [
                {
                    "id": "612899",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612899"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111322"
}