{
    "disease_id": "DOID:0111692",
    "recommended_name": {
        "id": "DOID:0111692",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111692",
        "name": "familial adult myoclonic epilepsy 2",
        "description": "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111692",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111692",
            "name": "ADCME",
            "description": ""
        },
        {
            "id": "DOID:0111692",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111692",
            "name": "BAFME2",
            "description": ""
        },
        {
            "id": "DOID:0111692",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111692",
            "name": "FAME2",
            "description": ""
        },
        {
            "id": "DOID:0111692",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111692",
            "name": "FCMTE2",
            "description": ""
        },
        {
            "id": "DOID:0111692",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111692",
            "name": "autosomal dominant cortical myoclonus and epilepsy",
            "description": ""
        },
        {
            "id": "DOID:0111692",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111692",
            "name": "benign adult familial myoclonic epilepsy 2",
            "description": ""
        },
        {
            "id": "DOID:0111692",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111692",
            "name": "familial cortical myoclonic tremor and epilepsy 2",
            "description": ""
        },
        {
            "id": "MONDO:0011930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011930",
            "name": "epilepsy, familial adult myoclonic, 2",
            "description": "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene."
        },
        {
            "id": "MONDO:0011930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011930",
            "name": "ADRA2B epilepsy, familial adult myoclonic",
            "description": ""
        },
        {
            "id": "MONDO:0011930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011930",
            "name": "epilepsy, familial adult myoclonic caused by mutation in ADRA2B",
            "description": ""
        },
        {
            "id": "MONDO:0011930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011930",
            "name": "epilepsy, familial adult myoclonic, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011930",
            "name": "epilepsy, familial adult myoclonic, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011930",
            "name": "FAME2",
            "description": ""
        },
        {
            "id": "MIM:607876",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607876",
            "name": "Epilepsy, familial adult myoclonic, 2",
            "description": "Epilepsy, familial adult myoclonic, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111692"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111692",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111692",
            "categories": []
        },
        {
            "id": "MONDO:0011930",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011930",
            "categories": []
        },
        {
            "id": "MIM:607876",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607876",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UVX5-1",
            "uniprot_ac": "A0A8N7UVX5",
            "uniprot_id": "A0A8N7UVX5_DANRE",
            "refseq_ac": "XP_692994",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "StAR-related lipid transfer protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "START domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "stAR-related lipid transfer protein 7, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stard7",
                    "type": "recommended"
                },
                {
                    "name": "stard7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UVX5-1",
            "evidence": [
                {
                    "id": "0111692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R1R3-1",
            "uniprot_ac": "Q8R1R3",
            "uniprot_id": "STAR7_MOUSE",
            "refseq_ac": "NP_647469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "StAR-related lipid transfer protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "STARD7, mitochodrial",
                    "type": "synonym"
                },
                {
                    "name": "START domain containing 7",
                    "type": "synonym"
                },
                {
                    "name": "START domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "StARD7",
                    "type": "synonym"
                },
                {
                    "name": "stAR-related lipid transfer protein 7, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "stAR-related lipid transfer protein 7, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stard7",
                    "type": "recommended"
                },
                {
                    "name": "Stard7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1R3-1",
            "evidence": [
                {
                    "id": "0111692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18089-1",
            "uniprot_ac": "P18089",
            "uniprot_id": "ADA2B_HUMAN",
            "refseq_ac": "NP_000673",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-2B adrenergic receptor",
                    "type": "recommended"
                },
                {
                    "name": "ADRA2B adrenergic, alpha-2B-, receptor",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2 adrenergic receptor subtype C2",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2B adrenoceptor",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2B adrenoreceptor",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2BAR",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 adrenergic receptor subtype C2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-adrenergic receptor-like 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2B adrenergic receptor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2B adrenoreceptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADRA2B",
                    "type": "recommended"
                },
                {
                    "name": "ADRA2B",
                    "type": "synonym"
                },
                {
                    "name": "ADRA2L1",
                    "type": "synonym"
                },
                {
                    "name": "ADRA2RL1",
                    "type": "synonym"
                },
                {
                    "name": "ADRARL1",
                    "type": "synonym"
                },
                {
                    "name": "ALPHA2BAR",
                    "type": "synonym"
                },
                {
                    "name": "FAME2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2BAR",
                    "type": "synonym"
                }
            ],
            "record_id": "P18089-1",
            "evidence": [
                {
                    "id": "607876",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607876"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ATX5-1",
            "uniprot_ac": "A0A8I6ATX5",
            "uniprot_id": "A0A8I6ATX5_RAT",
            "refseq_ac": "NP_001386207",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "StAR-related lipid transfer protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "START domain containing 7",
                    "type": "synonym"
                },
                {
                    "name": "START domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "StAR-related lipid transfer (START) domain containing 7",
                    "type": "synonym"
                },
                {
                    "name": "stAR-related lipid transfer protein 7, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stard7",
                    "type": "recommended"
                },
                {
                    "name": "Stard7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ATX5-1",
            "evidence": [
                {
                    "id": "0111692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJZ2-1",
            "uniprot_ac": "Q9VJZ2",
            "uniprot_id": "Q9VJZ2_DROME",
            "refseq_ac": "NP_001285891",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "START domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG6565-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stard7",
                    "type": "recommended"
                },
                {
                    "name": "CG6565",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6565",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6565",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJZ2-1",
            "evidence": [
                {
                    "id": "0111692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111692"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQZ5-1",
            "uniprot_ac": "Q9NQZ5",
            "uniprot_id": "STAR7_HUMAN",
            "refseq_ac": "NP_064536",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "StAR-related lipid transfer protein 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Gestational trophoblastic tumor protein 1",
                    "type": "synonym"
                },
                {
                    "name": "STARD7, mitochodrial",
                    "type": "synonym"
                },
                {
                    "name": "START domain containing 7",
                    "type": "synonym"
                },
                {
                    "name": "START domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "StAR-related lipid transfer (START) domain containing 7",
                    "type": "synonym"
                },
                {
                    "name": "StARD7",
                    "type": "synonym"
                },
                {
                    "name": "StarD7-II",
                    "type": "synonym"
                },
                {
                    "name": "StarD7-I",
                    "type": "synonym"
                },
                {
                    "name": "benign adult familial myoclonic epilepsy 2",
                    "type": "synonym"
                },
                {
                    "name": "cortical myoclonus and epilepsy, autosomal dominant",
                    "type": "synonym"
                },
                {
                    "name": "familial adult myoclonic epilepsy 2",
                    "type": "synonym"
                },
                {
                    "name": "familial cortical myoclonic tremor with epilepsy 2",
                    "type": "synonym"
                },
                {
                    "name": "gestational trophoblastic tumor protein 1",
                    "type": "synonym"
                },
                {
                    "name": "stAR-related lipid transfer protein 7, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "stAR-related lipid transfer protein 7, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STARD7",
                    "type": "recommended"
                },
                {
                    "name": "ADCME",
                    "type": "synonym"
                },
                {
                    "name": "BAFME2",
                    "type": "synonym"
                },
                {
                    "name": "FAME2",
                    "type": "synonym"
                },
                {
                    "name": "FAME",
                    "type": "synonym"
                },
                {
                    "name": "FCMTE2",
                    "type": "synonym"
                },
                {
                    "name": "GTT1",
                    "type": "synonym"
                },
                {
                    "name": "STARD7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQZ5-1",
            "evidence": [
                {
                    "id": "0111692",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111692"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111692"
}