{
    "disease_id": "DOID:0111451",
    "recommended_name": {
        "id": "DOID:0111451",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111451",
        "name": "progressive myoclonus epilepsy 8",
        "description": "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111451",
            "name": "EMP8",
            "description": ""
        },
        {
            "id": "DOID:0111451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111451",
            "name": "PME type 8",
            "description": ""
        },
        {
            "id": "DOID:0111451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111451",
            "name": "progressive myoclonic epilepsy due to CERS1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111451",
            "name": "progressive myoclonus epilepsy type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "progressive myoclonic epilepsy type 8",
            "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene."
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "CERS1 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "EPM8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "PME type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "epilepsy, progressive myoclonic, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "progressive myoclonic epilepsy caused by mutation in CERS1",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "progressive myoclonic epilepsy due to CERS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "progressive myoclonus epilepsy type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "epilepsy, progressive myoclonic, 8",
            "description": ""
        },
        {
            "id": "MIM:616230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616230",
            "name": "Epilepsy, progressive myoclonic 8",
            "description": "Epilepsy, progressive myoclonic 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111451"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111451",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111451",
            "categories": []
        },
        {
            "id": "MONDO:0014545",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "categories": []
        },
        {
            "id": "MIM:616230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616230",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P27545-1",
            "uniprot_ac": "P27545",
            "uniprot_id": "CERS1_MOUSE",
            "refseq_ac": "NP_619588",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.24",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.299",
                    "type": "synonym"
                },
                {
                    "name": "CerS1",
                    "type": "synonym"
                },
                {
                    "name": "LAG1 homolog, ceramide synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "LAG1 longevity assurance homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Longevity assurance gene 1 protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein UOG-1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingoid base N-stearoyltransferase CERS1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine N-acyltransferase CERS1",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "longevity assurance gene 1 protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein UOG-1",
                    "type": "synonym"
                },
                {
                    "name": "sphingoid base N-stearoyltransferase CERS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cers1",
                    "type": "recommended"
                },
                {
                    "name": "Cers1",
                    "type": "synonym"
                },
                {
                    "name": "Lass1",
                    "type": "synonym"
                },
                {
                    "name": "Uog-1",
                    "type": "synonym"
                },
                {
                    "name": "Uog1",
                    "type": "synonym"
                },
                {
                    "name": "to",
                    "type": "synonym"
                }
            ],
            "record_id": "P27545-1",
            "evidence": [
                {
                    "id": "0111451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27544-1",
            "uniprot_ac": "P27544",
            "uniprot_id": "CERS1_HUMAN",
            "refseq_ac": "NP_067090",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.24",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.299",
                    "type": "synonym"
                },
                {
                    "name": "CerS1",
                    "type": "synonym"
                },
                {
                    "name": "Embryonic growth/differentiation factor 1",
                    "type": "synonym"
                },
                {
                    "name": "LAG1 longevity assurance homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Longevity assurance gene 1 protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein UOG-1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingoid base N-stearoyltransferase CERS1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine N-acyltransferase CERS1",
                    "type": "synonym"
                },
                {
                    "name": "ceramide synthase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "longevity assurance (LAG1, S. cerevisiae) homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "longevity assurance gene 1 protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein UOG-1",
                    "type": "synonym"
                },
                {
                    "name": "sphingoid base N-stearoyltransferase CERS1",
                    "type": "synonym"
                },
                {
                    "name": "upstream of GDF1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CERS1",
                    "type": "recommended"
                },
                {
                    "name": "CERS1",
                    "type": "synonym"
                },
                {
                    "name": "EPM8",
                    "type": "synonym"
                },
                {
                    "name": "LAG1",
                    "type": "synonym"
                },
                {
                    "name": "LASS1",
                    "type": "synonym"
                },
                {
                    "name": "UOG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P27544-1",
            "evidence": [
                {
                    "id": "616230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616230"
                },
                {
                    "id": "0111451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28496-1",
            "uniprot_ac": "P28496",
            "uniprot_id": "LAC1_YEAST",
            "refseq_ac": "NP_012917",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceramide synthase LAC1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.297",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain ceramide synthase LAC1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine N-acyltransferase LAC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAC1",
                    "type": "recommended"
                },
                {
                    "name": "DGT1",
                    "type": "synonym"
                },
                {
                    "name": "LAC1",
                    "type": "synonym"
                },
                {
                    "name": "YKL156",
                    "type": "synonym"
                }
            ],
            "record_id": "P28496-1",
            "evidence": [
                {
                    "id": "0111451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111451"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111451"
}