{
    "disease_id": "DOID:0111452",
    "recommended_name": {
        "id": "DOID:0111452",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111452",
        "name": "progressive myoclonus epilepsy 1A",
        "description": "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111452",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111452",
            "name": "EPM1A",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "Unverricht-Lundborg syndrome",
            "description": "Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time."
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "PME type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "ULD",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "Unverricht-Lundborg disease",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "Unverricht-Lundborg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "progressive myoclonic epilepsy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "progressive myoclonus epilepsy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "EPM1",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "epilepsy, progressive myoclonic type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
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            "name": "epilepsy, progressive myoclonus 1",
            "description": ""
        },
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            "name": "myoclonus progressive epilepsy of Unverricht and Lundborg",
            "description": ""
        },
        {
            "id": "MONDO:0009698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "name": "progressive myoclonus epilepsy Baltic myoclonic epilepsy",
            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/254800",
            "name": "Epilepsy, progressive myoclonic 1",
            "description": "Epilepsy, progressive myoclonic 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111452"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111452",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111452",
            "categories": []
        },
        {
            "id": "MONDO:0009698",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009698",
            "categories": []
        },
        {
            "id": "MIM:254800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/254800",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A2R8QDV2",
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            ],
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                    "name": "Cystatin-B",
                    "type": "recommended"
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                    "name": "Stefin-B",
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                    "name": "cystatin 14 b, tandem duplicated 1",
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                },
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                    "name": "cystatin 14b, tandem duplicate 1",
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                {
                    "name": "zgc:153129",
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            ]
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                }
            ],
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                {
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            ],
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                    "type": "recommended"
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                    "name": "Cst6",
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                    "name": "Stfb",
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        },
        {
            "uniprot_canonical_ac": "P04080-1",
            "uniprot_ac": "P04080",
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Cystatin-B",
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                {
                    "name": "Liver thiol proteinase inhibitor",
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                {
                    "name": "cystatin B (stefin B)",
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                    "name": "cystatin-B",
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                {
                    "name": "epididymis secretory sperm binding protein",
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                    "name": "liver thiol proteinase inhibitor",
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            ],
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            ],
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111452"
}