{
    "disease_id": "DOID:0111448",
    "recommended_name": {
        "id": "DOID:0111448",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111448",
        "name": "progressive myoclonus epilepsy 1B",
        "description": "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111448",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111448",
            "name": "EPM1B",
            "description": ""
        },
        {
            "id": "MONDO:0012904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012904",
            "name": "epilepsy, progressive myoclonic, 1B",
            "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene."
        },
        {
            "id": "MONDO:0012904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012904",
            "name": "PRICKLE1 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012904",
            "name": "epilepsy, progressive myoclonic 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012904",
            "name": "epilepsy, progressive myoclonic, 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012904",
            "name": "epilepsy, progressive myoclonic, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012904",
            "name": "progressive myoclonic epilepsy caused by mutation in PRICKLE1",
            "description": ""
        },
        {
            "id": "MONDO:0012904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012904",
            "name": "EPM1B",
            "description": ""
        },
        {
            "id": "MIM:612437",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612437",
            "name": "Epilepsy, progressive myoclonic 1B",
            "description": "Epilepsy, progressive myoclonic 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111448"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111448",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111448",
            "categories": []
        },
        {
            "id": "MONDO:0012904",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012904",
            "categories": []
        },
        {
            "id": "MIM:612437",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612437",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q6J9-1",
            "uniprot_ac": "F1Q6J9",
            "uniprot_id": "F1Q6J9_DANRE",
            "refseq_ac": "XP_005174267",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prickle-like protein 1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "prickle-like protein 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prickle1a",
                    "type": "recommended"
                },
                {
                    "name": "fk71b09",
                    "type": "synonym"
                },
                {
                    "name": "pk1",
                    "type": "synonym"
                },
                {
                    "name": "prickle1a",
                    "type": "synonym"
                },
                {
                    "name": "prickle1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk71b09",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q6J9-1",
            "evidence": [
                {
                    "id": "0111448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F2Z4V3-1",
            "uniprot_ac": "F2Z4V3",
            "uniprot_id": "F2Z4V3_DANRE",
            "refseq_ac": "NP_001025269",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prickle-like protein 1b",
                    "type": "synonym"
                },
                {
                    "name": "pk1b",
                    "type": "synonym"
                },
                {
                    "name": "prickle homolog 1 b",
                    "type": "synonym"
                },
                {
                    "name": "prickle-like protein 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prickle1b",
                    "type": "recommended"
                },
                {
                    "name": "fb98c11",
                    "type": "synonym"
                },
                {
                    "name": "prickle1b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-155a11.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb98c11",
                    "type": "synonym"
                }
            ],
            "record_id": "F2Z4V3-1",
            "evidence": [
                {
                    "id": "0111448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U5C7-1",
            "uniprot_ac": "Q3U5C7",
            "uniprot_id": "PRIC1_MOUSE",
            "refseq_ac": "NP_001028389",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prickle-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "prickle homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "prickle-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prickle1",
                    "type": "recommended"
                },
                {
                    "name": "1110058P22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pk1",
                    "type": "synonym"
                },
                {
                    "name": "Prickle1",
                    "type": "synonym"
                },
                {
                    "name": "Prickle",
                    "type": "synonym"
                },
                {
                    "name": "b2b019Clo",
                    "type": "synonym"
                },
                {
                    "name": "mpk1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U5C7-1",
            "evidence": [
                {
                    "id": "0111448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96MT3-1",
            "uniprot_ac": "Q96MT3",
            "uniprot_id": "PRIC1_HUMAN",
            "refseq_ac": "NP_001138353",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prickle-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein",
                    "type": "synonym"
                },
                {
                    "name": "REST/NRSF interacting LIM domain protein",
                    "type": "synonym"
                },
                {
                    "name": "REST/NRSF-interacting LIM domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "prickle homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "prickle-like 1",
                    "type": "synonym"
                },
                {
                    "name": "prickle-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRICKLE1",
                    "type": "recommended"
                },
                {
                    "name": "EPM1B",
                    "type": "synonym"
                },
                {
                    "name": "PRICKLE1",
                    "type": "synonym"
                },
                {
                    "name": "RILP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MT3-1",
            "evidence": [
                {
                    "id": "612437",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612437"
                },
                {
                    "id": "0111448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q71QF9-1",
            "uniprot_ac": "Q71QF9",
            "uniprot_id": "PRIC1_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": "Prickle-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "REST/NRSF-interacting LIM domain protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prickle1",
                    "type": "recommended"
                },
                {
                    "name": "Rilp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q71QF9-1",
            "evidence": [
                {
                    "id": "0111448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z6W3-1",
            "uniprot_ac": "A1Z6W3",
            "uniprot_id": "PRIC1_DROME",
            "refseq_ac": "NP_724534",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein prickle",
                    "type": "recommended"
                },
                {
                    "name": "CG11084-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein spiny legs",
                    "type": "synonym"
                },
                {
                    "name": "pk-PA",
                    "type": "synonym"
                },
                {
                    "name": "prickle, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "prickle-spiny legs",
                    "type": "synonym"
                },
                {
                    "name": "prickle-spiny-legs",
                    "type": "synonym"
                },
                {
                    "name": "spiny leg",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pk",
                    "type": "recommended"
                },
                {
                    "name": "CG11084",
                    "type": "synonym"
                },
                {
                    "name": "CG12830",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11084",
                    "type": "synonym"
                },
                {
                    "name": "PK",
                    "type": "synonym"
                },
                {
                    "name": "Pk-Sple",
                    "type": "synonym"
                },
                {
                    "name": "Pk",
                    "type": "synonym"
                },
                {
                    "name": "Sple",
                    "type": "synonym"
                },
                {
                    "name": "pk-sple",
                    "type": "synonym"
                },
                {
                    "name": "pkM",
                    "type": "synonym"
                },
                {
                    "name": "pk",
                    "type": "synonym"
                },
                {
                    "name": "sple",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z6W3-1",
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                {
                    "id": "0111448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9U1I1-1",
            "uniprot_ac": "Q9U1I1",
            "uniprot_id": "ESN_DROME",
            "refseq_ac": "NP_524990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein espinas",
                    "type": "recommended"
                },
                {
                    "name": "CG43722-PB",
                    "type": "synonym"
                },
                {
                    "name": "esn-PB",
                    "type": "synonym"
                },
                {
                    "name": "espinas, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "espinas",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "esn",
                    "type": "recommended"
                },
                {
                    "name": "CG12833",
                    "type": "synonym"
                },
                {
                    "name": "CG12835",
                    "type": "synonym"
                },
                {
                    "name": "CG43722",
                    "type": "synonym"
                },
                {
                    "name": "Dm_2R:11728",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43722",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43722",
                    "type": "synonym"
                },
                {
                    "name": "Esn",
                    "type": "synonym"
                },
                {
                    "name": "esn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9U1I1-1",
            "evidence": [
                {
                    "id": "0111448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111448"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111448"
}