{
    "disease_id": "DOID:0112218",
    "recommended_name": {
        "id": "DOID:0112218",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112218",
        "name": "developmental and epileptic encephalopathy 83",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15."
    },
    "synonyms": [
        {
            "id": "DOID:0112218",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112218",
            "name": "DEE83",
            "description": ""
        },
        {
            "id": "DOID:0112218",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112218",
            "name": "early infantile epileptic encephalopathy 83",
            "description": ""
        },
        {
            "id": "MONDO:0032895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032895",
            "name": "developmental and epileptic encephalopathy, 83",
            "description": ""
        },
        {
            "id": "MONDO:0032895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032895",
            "name": "DEE83",
            "description": ""
        },
        {
            "id": "MONDO:0032895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032895",
            "name": "EIEE83",
            "description": ""
        },
        {
            "id": "MONDO:0032895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032895",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83",
            "description": ""
        },
        {
            "id": "MONDO:0032895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032895",
            "name": "developmental and epileptic encephalopathy 83",
            "description": ""
        },
        {
            "id": "MONDO:0032895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032895",
            "name": "epileptic encephalopathy, early infantile, 83",
            "description": ""
        },
        {
            "id": "MIM:618744",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618744",
            "name": "Developmental and epileptic encephalopathy 83",
            "description": "Developmental and epileptic encephalopathy 83"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112218"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112218",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112218",
            "categories": []
        },
        {
            "id": "MONDO:0032895",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032895",
            "categories": []
        },
        {
            "id": "MIM:618744",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618744",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QDY2-1",
            "uniprot_ac": "F1QDY2",
            "uniprot_id": "F1QDY2_DANRE",
            "refseq_ac": "NP_997894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.9",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose pyrophosphorylase 2b isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose pyrophosphorylase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ugp2b",
                    "type": "recommended"
                },
                {
                    "name": "Ugp2",
                    "type": "synonym"
                },
                {
                    "name": "fi53h10",
                    "type": "synonym"
                },
                {
                    "name": "ugp2b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi53h10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85662",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QDY2-1",
            "evidence": [
                {
                    "id": "0112218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B230-1",
            "uniprot_ac": "A0A8M2B230",
            "uniprot_id": "A0A8M2B230_DANRE",
            "refseq_ac": "XP_005155455",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.9",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose pyrophosphorylase 2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ugp2a",
                    "type": "recommended"
                },
                {
                    "name": "si:ch73-233a22.2",
                    "type": "synonym"
                },
                {
                    "name": "ugp2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B230-1",
            "evidence": [
                {
                    "id": "0112218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZJ5-1",
            "uniprot_ac": "Q91ZJ5",
            "uniprot_id": "UGPA_MOUSE",
            "refseq_ac": "NP_001277563",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.9",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "UDPGP",
                    "type": "synonym"
                },
                {
                    "name": "UGPase",
                    "type": "synonym"
                },
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "uridindiphosphoglucosepyrophosphorylase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ugp2",
                    "type": "recommended"
                },
                {
                    "name": "UDPGP",
                    "type": "synonym"
                },
                {
                    "name": "UGPase",
                    "type": "synonym"
                },
                {
                    "name": "Ugp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZJ5-1",
            "evidence": [
                {
                    "id": "0112218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16851-1",
            "uniprot_ac": "Q16851",
            "uniprot_id": "UGPA_HUMAN",
            "refseq_ac": "NP_001001521",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.9",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose diphosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose pyrophosphorylase 1",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "UDPGP",
                    "type": "synonym"
                },
                {
                    "name": "UGPase 2",
                    "type": "synonym"
                },
                {
                    "name": "UGPase",
                    "type": "synonym"
                },
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "UTP-glucose-1-phosphate uridyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Uridyl diphosphate glucose pyrophosphorylase-1",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 58p",
                    "type": "synonym"
                },
                {
                    "name": "uridyl diphosphate glucose pyrophosphorylase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UGP2",
                    "type": "recommended"
                },
                {
                    "name": "DEE83",
                    "type": "synonym"
                },
                {
                    "name": "EIEE83",
                    "type": "synonym"
                },
                {
                    "name": "SVUGP2",
                    "type": "synonym"
                },
                {
                    "name": "UDPGP2",
                    "type": "synonym"
                },
                {
                    "name": "UDPGP",
                    "type": "synonym"
                },
                {
                    "name": "UDPG",
                    "type": "synonym"
                },
                {
                    "name": "UGP1",
                    "type": "synonym"
                },
                {
                    "name": "UGP2",
                    "type": "synonym"
                },
                {
                    "name": "UGPP1",
                    "type": "synonym"
                },
                {
                    "name": "UGPP2",
                    "type": "synonym"
                },
                {
                    "name": "pHC379",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16851-1",
            "evidence": [
                {
                    "id": "618744",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618744"
                },
                {
                    "id": "0112218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38709-1",
            "uniprot_ac": "P38709",
            "uniprot_id": "UGPA2_YEAST",
            "refseq_ac": "NP_011851",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.9",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "UDPGP",
                    "type": "synonym"
                },
                {
                    "name": "UGPase",
                    "type": "synonym"
                },
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [],
            "record_id": "P38709-1",
            "evidence": [
                {
                    "id": "0112218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32861-1",
            "uniprot_ac": "P32861",
            "uniprot_id": "UGPA1_YEAST",
            "refseq_ac": "NP_012889",
            "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": "UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.9",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "UDPGP",
                    "type": "synonym"
                },
                {
                    "name": "UGPase",
                    "type": "synonym"
                },
                {
                    "name": "UTP glucose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UGP1",
                    "type": "recommended"
                },
                {
                    "name": "UGP1",
                    "type": "synonym"
                },
                {
                    "name": "YKL248",
                    "type": "synonym"
                }
            ],
            "record_id": "P32861-1",
            "evidence": [
                {
                    "id": "0112218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K542-1",
            "uniprot_ac": "A0A0G2K542",
            "uniprot_id": "A0A0G2K542_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": "UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ugp2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K542-1",
            "evidence": [
                {
                    "id": "0112218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSW1-1",
            "uniprot_ac": "Q9VSW1",
            "uniprot_id": "Q9VSW1_DROME",
            "refseq_ac": "NP_648300",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "UTP--glucose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.9",
                    "type": "synonym"
                },
                {
                    "name": "CG4347-PA",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose pyrophosphorylase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "UGP-PA",
                    "type": "synonym"
                },
                {
                    "name": "UTP-G-1-P uridyiyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "uridine diphosphate-glucose pyrophosphorylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ugp",
                    "type": "recommended"
                },
                {
                    "name": "CG4347",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4347",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4347",
                    "type": "synonym"
                },
                {
                    "name": "UDPGPP",
                    "type": "synonym"
                },
                {
                    "name": "UGPase",
                    "type": "synonym"
                },
                {
                    "name": "UGP",
                    "type": "synonym"
                },
                {
                    "name": "dUGP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSW1-1",
            "evidence": [
                {
                    "id": "0112218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112218"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112218"
}