{
    "disease_id": "DOID:0111445",
    "recommended_name": {
        "id": "DOID:0111445",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111445",
        "name": "progressive myoclonus epilepsy 10",
        "description": "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111445",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111445",
            "name": "EPM10",
            "description": ""
        },
        {
            "id": "DOID:0111445",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111445",
            "name": "early-onset Lafora body disease",
            "description": ""
        },
        {
            "id": "MONDO:0014717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014717",
            "name": "early-onset Lafora body disease",
            "description": "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades."
        },
        {
            "id": "MONDO:0014717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014717",
            "name": "EPM10",
            "description": ""
        },
        {
            "id": "MONDO:0014717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014717",
            "name": "epilepsy, progressive myoclonic, 10",
            "description": ""
        },
        {
            "id": "MONDO:0014717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014717",
            "name": "epilepsy, progressive myoclonic, type 10",
            "description": ""
        },
        {
            "id": "MIM:616640",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616640",
            "name": "Epilepsy, progressive myoclonic 10",
            "description": "Epilepsy, progressive myoclonic 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111445"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111445",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111445",
            "categories": []
        },
        {
            "id": "MONDO:0014717",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014717",
            "categories": []
        },
        {
            "id": "MIM:616640",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616640",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2BG51-1",
            "uniprot_ac": "A2BG51",
            "uniprot_id": "A2BG51_DANRE",
            "refseq_ac": "NP_001098575",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 8",
                    "type": "recommended"
                },
                {
                    "name": "PR domain zinc finger protein 8b",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prdm8b",
                    "type": "recommended"
                },
                {
                    "name": "prdm8b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-57h10.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BG51-1",
            "evidence": [
                {
                    "id": "0111445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BZ97-1",
            "uniprot_ac": "Q8BZ97",
            "uniprot_id": "PRDM8_MOUSE",
            "refseq_ac": "NP_084223",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 8",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 8",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm8",
                    "type": "recommended"
                },
                {
                    "name": "4930565F05Rik",
                    "type": "synonym"
                },
                {
                    "name": "PFM5",
                    "type": "synonym"
                },
                {
                    "name": "Prdm8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZ97-1",
            "evidence": [
                {
                    "id": "0111445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQV8-1",
            "uniprot_ac": "Q9NQV8",
            "uniprot_id": "PRDM8_HUMAN",
            "refseq_ac": "NP_001092873",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PR domain zinc finger protein 8",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "PR domain 8",
                    "type": "synonym"
                },
                {
                    "name": "PR domain zinc finger protein 8",
                    "type": "synonym"
                },
                {
                    "name": "PR domain-containing protein 8",
                    "type": "synonym"
                },
                {
                    "name": "PR-domain containing protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRDM8",
                    "type": "recommended"
                },
                {
                    "name": "EPM10",
                    "type": "synonym"
                },
                {
                    "name": "KMT8D",
                    "type": "synonym"
                },
                {
                    "name": "PFM5",
                    "type": "synonym"
                },
                {
                    "name": "PRDM8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQV8-1",
            "evidence": [
                {
                    "id": "616640",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616640"
                },
                {
                    "id": "0111445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A123-1",
            "uniprot_ac": "D4A123",
            "uniprot_id": "D4A123_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": "PR domain zinc finger protein 8",
                    "type": "recommended"
                },
                {
                    "name": "PR domain-containing protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdm8",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A123-1",
            "evidence": [
                {
                    "id": "0111445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111445"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PEQ7-1",
            "uniprot_ac": "M9PEQ7",
            "uniprot_id": "M9PEQ7_DROME",
            "refseq_ac": "NP_001261454",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "C2H2-type domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13287-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13287",
                    "type": "recommended"
                },
                {
                    "name": "CG13287",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13287",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13287",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PEQ7-1",
            "evidence": [
                {
                    "id": "0111445",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111445"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111445"
}