{
    "disease_id": "DOID:0061211",
    "recommended_name": {
        "id": "DOID:0061211",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061211",
        "name": "Lafora disease 2",
        "description": "A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22."
    },
    "synonyms": [
        {
            "id": "DOID:0061211",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061211",
            "name": "progressive myoclonic epilepsy 2B",
            "description": ""
        },
        {
            "id": "MONDO:0800306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800306",
            "name": "myoclonic epilepsy of Lafora 2",
            "description": "Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene."
        },
        {
            "id": "MONDO:0800306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800306",
            "name": "EPM2B",
            "description": ""
        },
        {
            "id": "MONDO:0800306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800306",
            "name": "Lafora disease 2",
            "description": ""
        },
        {
            "id": "MONDO:0800306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800306",
            "name": "MELF2",
            "description": ""
        },
        {
            "id": "MONDO:0800306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800306",
            "name": "epilepsy, progressive myoclonic, 2B",
            "description": ""
        },
        {
            "id": "MONDO:0800306",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800306",
            "name": "myoclonic epilepsy of Lafora 2",
            "description": ""
        },
        {
            "id": "MIM:620681",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620681",
            "name": "Myoclonic epilepsy of Lafora 2",
            "description": "Myoclonic epilepsy of Lafora 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061211"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061211",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061211",
            "categories": []
        },
        {
            "id": "MONDO:0800306",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800306",
            "categories": []
        },
        {
            "id": "MIM:620681",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620681",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BR37-1",
            "uniprot_ac": "Q8BR37",
            "uniprot_id": "NHLC1_MOUSE",
            "refseq_ac": "NP_780549",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase NHLRC1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase NHLRC1",
                    "type": "synonym"
                },
                {
                    "name": "Malin",
                    "type": "synonym"
                },
                {
                    "name": "NHL repeat-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase NHLRC1",
                    "type": "synonym"
                },
                {
                    "name": "malin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nhlrc1",
                    "type": "recommended"
                },
                {
                    "name": "B230309E09Rik",
                    "type": "synonym"
                },
                {
                    "name": "EPM2B",
                    "type": "synonym"
                },
                {
                    "name": "Epm2b",
                    "type": "synonym"
                },
                {
                    "name": "Nhlrc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BR37-1",
            "evidence": [
                {
                    "id": "0061211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6VVB1-1",
            "uniprot_ac": "Q6VVB1",
            "uniprot_id": "NHLC1_HUMAN",
            "refseq_ac": "NP_940988",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase NHLRC1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase NHLRC1",
                    "type": "synonym"
                },
                {
                    "name": "Malin",
                    "type": "synonym"
                },
                {
                    "name": "NHL repeat containing 1",
                    "type": "synonym"
                },
                {
                    "name": "NHL repeat-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase NHLRC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NHLRC1",
                    "type": "recommended"
                },
                {
                    "name": "EPM2B",
                    "type": "synonym"
                },
                {
                    "name": "MALIN",
                    "type": "synonym"
                },
                {
                    "name": "MELF2",
                    "type": "synonym"
                },
                {
                    "name": "NHLRC1",
                    "type": "synonym"
                },
                {
                    "name": "bA204B7.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6VVB1-1",
            "evidence": [
                {
                    "id": "620681",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620681"
                },
                {
                    "id": "0061211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IMG5-1",
            "uniprot_ac": "Q6IMG5",
            "uniprot_id": "NHLC1_RAT",
            "refseq_ac": "NP_954706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase NHLRC1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase NHLRC1",
                    "type": "synonym"
                },
                {
                    "name": "Malin",
                    "type": "synonym"
                },
                {
                    "name": "NHL repeat containing 1",
                    "type": "synonym"
                },
                {
                    "name": "NHL repeat-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase NHLRC1",
                    "type": "synonym"
                },
                {
                    "name": "malin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nhlrc1",
                    "type": "recommended"
                },
                {
                    "name": "Epm2b",
                    "type": "synonym"
                },
                {
                    "name": "Nhlrc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IMG5-1",
            "evidence": [
                {
                    "id": "0061211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061211"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061211"
}