{
    "disease_id": "DOID:0111690",
    "recommended_name": {
        "id": "DOID:0111690",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111690",
        "name": "familial adult myoclonic epilepsy 1",
        "description": "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111690",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111690",
            "name": "BAFME1",
            "description": ""
        },
        {
            "id": "DOID:0111690",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111690",
            "name": "FAME1",
            "description": ""
        },
        {
            "id": "DOID:0111690",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111690",
            "name": "FCMTE1",
            "description": ""
        },
        {
            "id": "DOID:0111690",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111690",
            "name": "benign adult familial myoclonic epilepsy 1",
            "description": ""
        },
        {
            "id": "DOID:0111690",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111690",
            "name": "familial cortical myoclonic tremor and epilepsy 1",
            "description": ""
        },
        {
            "id": "MONDO:0010985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010985",
            "name": "epilepsy, familial adult myoclonic, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010985",
            "name": "FAME1",
            "description": ""
        },
        {
            "id": "MONDO:0010985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010985",
            "name": "epilepsy, familial ADULT myoclonic, 1",
            "description": ""
        },
        {
            "id": "MIM:601068",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601068",
            "name": "Epilepsy, familial adult myoclonic, 1",
            "description": "Epilepsy, familial adult myoclonic, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111690"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111690",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111690",
            "categories": []
        },
        {
            "id": "MONDO:0010985",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010985",
            "categories": []
        },
        {
            "id": "MIM:601068",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601068",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q0VE29-1",
            "uniprot_ac": "Q0VE29",
            "uniprot_id": "SAM12_MOUSE",
            "refseq_ac": "NP_796199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterile alpha motif domain-containing protein 12",
                    "type": "recommended"
                },
                {
                    "name": "SAM domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain-containing protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Samd12",
                    "type": "recommended"
                },
                {
                    "name": "A830094I09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Samd12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0VE29-1",
            "evidence": [
                {
                    "id": "0111690",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111690"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N8I0-1",
            "uniprot_ac": "Q8N8I0",
            "uniprot_id": "SAM12_HUMAN",
            "refseq_ac": "NP_997389",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterile alpha motif domain-containing protein 12",
                    "type": "recommended"
                },
                {
                    "name": "SAM domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "benign adult familial myoclonic epilepsy 1",
                    "type": "synonym"
                },
                {
                    "name": "familial adult myoclonic epilepsy 1",
                    "type": "synonym"
                },
                {
                    "name": "familial cortical myoclonic tremor with epilepsy 1",
                    "type": "synonym"
                },
                {
                    "name": "myoclonic epilepsy, benign adult familial",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain-containing protein 12 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain-containing protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAMD12",
                    "type": "recommended"
                },
                {
                    "name": "BAFME1",
                    "type": "synonym"
                },
                {
                    "name": "BAFME",
                    "type": "synonym"
                },
                {
                    "name": "FAME1",
                    "type": "synonym"
                },
                {
                    "name": "FAME",
                    "type": "synonym"
                },
                {
                    "name": "FCMTE1",
                    "type": "synonym"
                },
                {
                    "name": "MEBA",
                    "type": "synonym"
                },
                {
                    "name": "SAMD12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N8I0-1",
            "evidence": [
                {
                    "id": "601068",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601068"
                },
                {
                    "id": "0111690",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111690"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LW70-1",
            "uniprot_ac": "A0ABK0LW70",
            "uniprot_id": "A0ABK0LW70_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sterile alpha motif domain containing 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Samd12",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LW70-1",
            "evidence": [
                {
                    "id": "0111690",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111690"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8ML92-1",
            "uniprot_ac": "Q8ML92",
            "uniprot_id": "AVE_DROME",
            "refseq_ac": "NP_725413",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein aveugle",
                    "type": "recommended"
                },
                {
                    "name": "CG30476-PA",
                    "type": "synonym"
                },
                {
                    "name": "ave-PA",
                    "type": "synonym"
                },
                {
                    "name": "aveugle",
                    "type": "synonym"
                },
                {
                    "name": "hyphen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ave",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE67675",
                    "type": "synonym"
                },
                {
                    "name": "CG30476/Ave",
                    "type": "synonym"
                },
                {
                    "name": "CG30476",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30476",
                    "type": "synonym"
                },
                {
                    "name": "HYP",
                    "type": "synonym"
                },
                {
                    "name": "ave",
                    "type": "synonym"
                },
                {
                    "name": "hyp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8ML92-1",
            "evidence": [
                {
                    "id": "0111690",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111690"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111690"
}