{
    "disease_id": "DOID:0112219",
    "recommended_name": {
        "id": "DOID:0112219",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112219",
        "name": "developmental and epileptic encephalopathy 84",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14."
    },
    "synonyms": [
        {
            "id": "DOID:0112219",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112219",
            "name": "DEE84",
            "description": ""
        },
        {
            "id": "DOID:0112219",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112219",
            "name": "Jamuar syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112219",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112219",
            "name": "early infantile epileptic encephalopathy 84",
            "description": ""
        },
        {
            "id": "MONDO:0032918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032918",
            "name": "developmental and epileptic encephalopathy, 84",
            "description": ""
        },
        {
            "id": "MONDO:0032918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032918",
            "name": "DEE84",
            "description": ""
        },
        {
            "id": "MONDO:0032918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032918",
            "name": "EIEE84",
            "description": ""
        },
        {
            "id": "MONDO:0032918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032918",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84",
            "description": ""
        },
        {
            "id": "MONDO:0032918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032918",
            "name": "UGDH-Related Disorder",
            "description": ""
        },
        {
            "id": "MONDO:0032918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032918",
            "name": "developmental and epileptic encephalopathy 84",
            "description": ""
        },
        {
            "id": "MONDO:0032918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032918",
            "name": "epileptic encephalopathy, early infantile, 84",
            "description": ""
        },
        {
            "id": "MIM:618792",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618792",
            "name": "Developmental and epileptic encephalopathy 84",
            "description": "Developmental and epileptic encephalopathy 84"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112219"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112219",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112219",
            "categories": []
        },
        {
            "id": "MONDO:0032918",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032918",
            "categories": []
        },
        {
            "id": "MIM:618792",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618792",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O70475-1",
            "uniprot_ac": "O70475",
            "uniprot_id": "UGDH_MOUSE",
            "refseq_ac": "NP_033492",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-glucose 6-dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.22",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Glc dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcDH",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose 6-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDPGDH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ugdh",
                    "type": "recommended"
                },
                {
                    "name": "Udpgdh",
                    "type": "synonym"
                },
                {
                    "name": "Ugdh",
                    "type": "synonym"
                }
            ],
            "record_id": "O70475-1",
            "evidence": [
                {
                    "id": "0112219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60701-1",
            "uniprot_ac": "O60701",
            "uniprot_id": "UGDH_HUMAN",
            "refseq_ac": "NP_001171629",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-glucose 6-dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.22",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Glc dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcDH",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose 6-dehydrogenase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDPGDH",
                    "type": "synonym"
                },
                {
                    "name": "uridine diphospho-glucose dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UGDH",
                    "type": "recommended"
                },
                {
                    "name": "DEE84",
                    "type": "synonym"
                },
                {
                    "name": "EIEE84",
                    "type": "synonym"
                },
                {
                    "name": "GDH",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcDH",
                    "type": "synonym"
                },
                {
                    "name": "UDPGDH",
                    "type": "synonym"
                },
                {
                    "name": "UGDH",
                    "type": "synonym"
                },
                {
                    "name": "UGD",
                    "type": "synonym"
                }
            ],
            "record_id": "O60701-1",
            "evidence": [
                {
                    "id": "618792",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618792"
                },
                {
                    "id": "0112219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A9R8-1",
            "uniprot_ac": "A0A8I6A9R8",
            "uniprot_id": "A0A8I6A9R8_RAT",
            "refseq_ac": "NP_001386367",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "COPI coat complex subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex, subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cope",
                    "type": "recommended"
                },
                {
                    "name": "Cope",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A9R8-1",
            "evidence": [
                {
                    "id": "0112219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70199-1",
            "uniprot_ac": "O70199",
            "uniprot_id": "UGDH_RAT",
            "refseq_ac": "NP_112615",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-glucose 6-dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.22",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Glc dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcDH",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose 6-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose dehydrogeanse",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDPGDH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ugdh",
                    "type": "recommended"
                },
                {
                    "name": "Ugdh",
                    "type": "synonym"
                }
            ],
            "record_id": "O70199-1",
            "evidence": [
                {
                    "id": "0112219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O02373-1",
            "uniprot_ac": "O02373",
            "uniprot_id": "UGDH_DROME",
            "refseq_ac": "NP_476980",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-glucose 6-dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.22",
                    "type": "synonym"
                },
                {
                    "name": "CG10072-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein sugarless",
                    "type": "synonym"
                },
                {
                    "name": "Protein suppenkasper",
                    "type": "synonym"
                },
                {
                    "name": "UDP-Glc dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcDH",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose 6-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "UDPGDH",
                    "type": "synonym"
                },
                {
                    "name": "distal W5.4 group XIII",
                    "type": "synonym"
                },
                {
                    "name": "kiwi",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)SG9",
                    "type": "synonym"
                },
                {
                    "name": "sgl-PA",
                    "type": "synonym"
                },
                {
                    "name": "sugarless",
                    "type": "synonym"
                },
                {
                    "name": "suppenkasper",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sgl",
                    "type": "recommended"
                },
                {
                    "name": "8310",
                    "type": "synonym"
                },
                {
                    "name": "BG01214",
                    "type": "synonym"
                },
                {
                    "name": "CG10072",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10072",
                    "type": "synonym"
                },
                {
                    "name": "Sgl",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcDH",
                    "type": "synonym"
                },
                {
                    "name": "UDPGDH",
                    "type": "synonym"
                },
                {
                    "name": "XIII",
                    "type": "synonym"
                },
                {
                    "name": "kiwi",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05007",
                    "type": "synonym"
                },
                {
                    "name": "l(3)08310",
                    "type": "synonym"
                },
                {
                    "name": "l(3)10503",
                    "type": "synonym"
                },
                {
                    "name": "l(3)65CEd",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SG9",
                    "type": "synonym"
                },
                {
                    "name": "sgl",
                    "type": "synonym"
                },
                {
                    "name": "ska",
                    "type": "synonym"
                },
                {
                    "name": "sl",
                    "type": "synonym"
                }
            ],
            "record_id": "O02373-1",
            "evidence": [
                {
                    "id": "0112219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112219"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112219"
}