{
    "disease_id": "DOID:0080427",
    "recommended_name": {
        "id": "DOID:0080427",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080427",
        "name": "developmental and epileptic encephalopathy 40",
        "description": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12."
    },
    "synonyms": [
        {
            "id": "DOID:0080427",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080427",
            "name": "DEE40",
            "description": ""
        },
        {
            "id": "DOID:0080427",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080427",
            "name": "early infantile epileptic encephalopathy 40",
            "description": ""
        },
        {
            "id": "MONDO:0014895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "name": "developmental and epileptic encephalopathy, 40",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene."
        },
        {
            "id": "MONDO:0014895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "name": "DEE40",
            "description": ""
        },
        {
            "id": "MONDO:0014895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "name": "EIEE40",
            "description": ""
        },
        {
            "id": "MONDO:0014895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "name": "GUF1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "name": "developmental and epileptic encephalopathy 40",
            "description": ""
        },
        {
            "id": "MONDO:0014895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "name": "early infantile epileptic encephalopathy caused by mutation in GUF1",
            "description": ""
        },
        {
            "id": "MONDO:0014895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "name": "epileptic encephalopathy, early infantile, 40",
            "description": ""
        },
        {
            "id": "MONDO:0014895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "name": "epileptic encephalopathy, early infantile, 40; EIEE40",
            "description": ""
        },
        {
            "id": "MONDO:0014895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "name": "epileptic encephalopathy, early infantile, type 40",
            "description": ""
        },
        {
            "id": "MIM:617065",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617065",
            "name": "Developmental and epileptic encephalopathy 40",
            "description": "Developmental and epileptic encephalopathy 40"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080427"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080427",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080427",
            "categories": []
        },
        {
            "id": "MONDO:0014895",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014895",
            "categories": []
        },
        {
            "id": "MIM:617065",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617065",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T7J6-1",
            "uniprot_ac": "A0AB32T7J6",
            "uniprot_id": "A0AB32T7J6_DANRE",
            "refseq_ac": "XP_068069393",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation factor GUF1, mitochondrial isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "translation factor GUF1, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "guf1",
                    "type": "recommended"
                },
                {
                    "name": "guf1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T7J6-1",
            "evidence": [
                {
                    "id": "0080427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C3X4-1",
            "uniprot_ac": "Q8C3X4",
            "uniprot_id": "GUF1_MOUSE",
            "refseq_ac": "NP_001297560",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation factor Guf1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "EF-4",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein GUF1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTPase Guf1",
                    "type": "synonym"
                },
                {
                    "name": "GUF1 GTPase homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal back-translocase",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal back-translocase",
                    "type": "synonym"
                },
                {
                    "name": "translation factor Guf1, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "translation factor Guf1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Guf1",
                    "type": "recommended"
                },
                {
                    "name": "4631409J12",
                    "type": "synonym"
                },
                {
                    "name": "EF-4",
                    "type": "synonym"
                },
                {
                    "name": "Guf1",
                    "type": "synonym"
                },
                {
                    "name": "mtEF4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C3X4-1",
            "evidence": [
                {
                    "id": "0080427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N442-1",
            "uniprot_ac": "Q8N442",
            "uniprot_id": "GUF1_HUMAN",
            "refseq_ac": "NP_068746",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation factor GUF1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "EF-4",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein GUF1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTPase GUF1",
                    "type": "synonym"
                },
                {
                    "name": "GTPase of unknown function 1",
                    "type": "synonym"
                },
                {
                    "name": "GUF1 homolog, GTPase",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal back-translocase",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal back-translocase",
                    "type": "synonym"
                },
                {
                    "name": "translation factor GUF1, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "translation factor GUF1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUF1",
                    "type": "recommended"
                },
                {
                    "name": "DEE40",
                    "type": "synonym"
                },
                {
                    "name": "EF-4",
                    "type": "synonym"
                },
                {
                    "name": "EF4",
                    "type": "synonym"
                },
                {
                    "name": "EIEE40",
                    "type": "synonym"
                },
                {
                    "name": "GUF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N442-1",
            "evidence": [
                {
                    "id": "617065",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617065"
                },
                {
                    "id": "0080427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46943-1",
            "uniprot_ac": "P46943",
            "uniprot_id": "GUF1_YEAST",
            "refseq_ac": "NP_013392",
            "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": "Translation factor GUF1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "EF-4",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTPase GUF1",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal back-translocase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUF1",
                    "type": "recommended"
                },
                {
                    "name": "GUF1",
                    "type": "synonym"
                },
                {
                    "name": "L8003.7",
                    "type": "synonym"
                }
            ],
            "record_id": "P46943-1",
            "evidence": [
                {
                    "id": "0080427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZHF8-1",
            "uniprot_ac": "D3ZHF8",
            "uniprot_id": "D3ZHF8_RAT",
            "refseq_ac": "NP_001100685",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP binding elongation factor GUF1",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein GUF1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GUF1 GTPase homolog",
                    "type": "synonym"
                },
                {
                    "name": "GUF1 homolog, GTPase",
                    "type": "synonym"
                },
                {
                    "name": "translation factor GUF1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Guf1",
                    "type": "recommended"
                },
                {
                    "name": "Guf1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310774",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZHF8-1",
            "evidence": [
                {
                    "id": "0080427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRH6-1",
            "uniprot_ac": "Q9VRH6",
            "uniprot_id": "GUF1_DROME",
            "refseq_ac": "NP_001027089",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation factor waclaw, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "CG1410-PA",
                    "type": "synonym"
                },
                {
                    "name": "EF-4",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTPase GUF1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal back-translocase",
                    "type": "synonym"
                },
                {
                    "name": "waclaw",
                    "type": "synonym"
                },
                {
                    "name": "waw-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "waw",
                    "type": "recommended"
                },
                {
                    "name": "CG1410",
                    "type": "synonym"
                },
                {
                    "name": "CG32527",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1410",
                    "type": "synonym"
                },
                {
                    "name": "anon-19Fb",
                    "type": "synonym"
                },
                {
                    "name": "tu2",
                    "type": "synonym"
                },
                {
                    "name": "waw",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRH6-1",
            "evidence": [
                {
                    "id": "0080427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080427"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080427"
}