{
    "disease_id": "DOID:0070660",
    "recommended_name": {
        "id": "DOID:0070660",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070660",
        "name": "Lafora disease 1",
        "description": "A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070660",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070660",
            "name": "progressive myoclonic epilepsy 2A",
            "description": ""
        },
        {
            "id": "MONDO:0958199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958199",
            "name": "myoclonic epilepsy of Lafora 1",
            "description": "Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene."
        },
        {
            "id": "MIM:254780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/254780",
            "name": "Myoclonic epilepsy of lafora 1",
            "description": "Myoclonic epilepsy of lafora 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070660"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070660",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070660",
            "categories": []
        },
        {
            "id": "MONDO:0958199",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958199",
            "categories": []
        },
        {
            "id": "MIM:254780",
            "database": "MIM",
            "url": "https://www.omim.org/entry/254780",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BHX0-1",
            "uniprot_ac": "A0A8M2BHX0",
            "uniprot_id": "A0A8M2BHX0_DANRE",
            "refseq_ac": "XP_005170620",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laforin",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Glucan phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Lafora PTPase",
                    "type": "synonym"
                },
                {
                    "name": "laforin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "epm2a",
                    "type": "recommended"
                },
                {
                    "name": "epm2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BHX0-1",
            "evidence": [
                {
                    "id": "0070660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WUA5-1",
            "uniprot_ac": "Q9WUA5",
            "uniprot_id": "EPM2A_MOUSE",
            "refseq_ac": "NP_034276",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laforin",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Glucan phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "LAFPTPase",
                    "type": "synonym"
                },
                {
                    "name": "Lafora PTPase",
                    "type": "synonym"
                },
                {
                    "name": "glucan phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "lafora PTPase",
                    "type": "synonym"
                },
                {
                    "name": "laforin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epm2a",
                    "type": "recommended"
                },
                {
                    "name": "Epm2a",
                    "type": "synonym"
                },
                {
                    "name": "TG-B",
                    "type": "synonym"
                },
                {
                    "name": "TcrbK)TG-BFlv",
                    "type": "synonym"
                },
                {
                    "name": "Tg(TcraK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUA5-1",
            "evidence": [
                {
                    "id": "0070660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B3EWF7-1",
            "uniprot_ac": "B3EWF7",
            "uniprot_id": "EP2A2_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laforin, isoform 9",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "EPM2A",
                    "type": "recommended"
                }
            ],
            "record_id": "B3EWF7-1",
            "evidence": [
                {
                    "id": "254780",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/254780"
                },
                {
                    "id": "0070660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91XQ2-1",
            "uniprot_ac": "Q91XQ2",
            "uniprot_id": "EPM2A_RAT",
            "refseq_ac": "NP_001263691",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laforin",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "EPM2A, laforin glucan phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Glucan phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "LAFPTPase",
                    "type": "synonym"
                },
                {
                    "name": "Lafora PTPase",
                    "type": "synonym"
                },
                {
                    "name": "epilepsy, progressive myoclonic epilepsy, type 2 gene alpha",
                    "type": "synonym"
                },
                {
                    "name": "epilepsy, progressive myoclonus type 2A",
                    "type": "synonym"
                },
                {
                    "name": "glucan phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "lafora PTPase",
                    "type": "synonym"
                },
                {
                    "name": "laforin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epm2a",
                    "type": "recommended"
                },
                {
                    "name": "Epm2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XQ2-1",
            "evidence": [
                {
                    "id": "0070660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070660"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04105-1",
            "uniprot_ac": "Q04105",
            "uniprot_id": "Q04105_RAT",
            "refseq_ac": "NP_036764",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acidic proline-rich protein PRP25-like",
                    "type": "synonym"
                },
                {
                    "name": "Proline-rich protein 15",
                    "type": "synonym"
                },
                {
                    "name": "Proline-rich protein salivary",
                    "type": "synonym"
                },
                {
                    "name": "proline-rich protein 15 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proline-rich protein, salivary",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prp15",
                    "type": "recommended"
                },
                {
                    "name": "LOC120093139",
                    "type": "synonym"
                },
                {
                    "name": "Prp15",
                    "type": "synonym"
                },
                {
                    "name": "Prpb",
                    "type": "synonym"
                },
                {
                    "name": "Prp",
                    "type": "synonym"
                },
                {
                    "name": "RATRP13",
                    "type": "synonym"
                },
                {
                    "name": "Rp13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04105-1",
            "evidence": [
                {
                    "id": "0070660",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070660"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070660"
}