{
    "disease_id": "DOID:0111324",
    "recommended_name": {
        "id": "DOID:0111324",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111324",
        "name": "juvenile absence epilepsy 1",
        "description": "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111324",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111324",
            "name": "EJA1",
            "description": ""
        },
        {
            "id": "DOID:0111324",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111324",
            "name": "JAE1",
            "description": ""
        },
        {
            "id": "MONDO:0020772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020772",
            "name": "epilepsy, juvenile absence, susceptibility to, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020772",
            "name": "EJA1",
            "description": ""
        },
        {
            "id": "MONDO:0020772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020772",
            "name": "EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1",
            "description": ""
        },
        {
            "id": "MONDO:0020772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020772",
            "name": "JAE1",
            "description": ""
        },
        {
            "id": "MONDO:0020772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020772",
            "name": "epilepsy, juvenile absence, susceptibility to, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020772",
            "name": "susceptibility to juvenile absence epilepsy 1",
            "description": ""
        },
        {
            "id": "MIM:607631",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607631",
            "name": "Juvenile absence epilepsy 1",
            "description": "Juvenile absence epilepsy 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111324"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111324",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111324",
            "categories": []
        },
        {
            "id": "MONDO:0020772",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020772",
            "categories": []
        },
        {
            "id": "MIM:607631",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607631",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D9T8-1",
            "uniprot_ac": "Q9D9T8",
            "uniprot_id": "EFHC1_MOUSE",
            "refseq_ac": "NP_082250",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "EF-hand domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "EF-hand domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myoclonin-1",
                    "type": "synonym"
                },
                {
                    "name": "myoclonin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Efhc1",
                    "type": "recommended"
                },
                {
                    "name": "1700029F22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Efhc1",
                    "type": "synonym"
                },
                {
                    "name": "mRib72-1",
                    "type": "synonym"
                },
                {
                    "name": "myoclonin1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D9T8-1",
            "evidence": [
                {
                    "id": "0111324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JVL4-1",
            "uniprot_ac": "Q5JVL4",
            "uniprot_id": "EFHC1_HUMAN",
            "refseq_ac": "NP_001165891",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EF-hand domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "EF-hand domain (C-terminal) containing 1",
                    "type": "synonym"
                },
                {
                    "name": "EF-hand domain-containing protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "EF-hand domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myoclonin-1",
                    "type": "synonym"
                },
                {
                    "name": "myoclonin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EFHC1",
                    "type": "recommended"
                },
                {
                    "name": "EFHC1",
                    "type": "synonym"
                },
                {
                    "name": "EJM1",
                    "type": "synonym"
                },
                {
                    "name": "POC9",
                    "type": "synonym"
                },
                {
                    "name": "RIB72",
                    "type": "synonym"
                },
                {
                    "name": "dJ304B14.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JVL4-1",
            "evidence": [
                {
                    "id": "607631",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607631"
                },
                {
                    "id": "0111324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111324"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LLR5-1",
            "uniprot_ac": "A0ABK0LLR5",
            "uniprot_id": "A0ABK0LLR5_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": "EF-hand domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Myoclonin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Efhc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LLR5-1",
            "evidence": [
                {
                    "id": "0111324",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111324"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111324"
}