{
    "disease_id": "DOID:0070367",
    "recommended_name": {
        "id": "DOID:0070367",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070367",
        "name": "leukoencephalopathy with vanishing white matter 5",
        "description": "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "DOID:0070367",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070367",
            "name": "Cree leukoencephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0957873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957873",
            "name": "leukoencephalopathy with vanishing white matter 5",
            "description": ""
        },
        {
            "id": "MIM:620315",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620315",
            "name": "Leukoencephalopathy with vanishing white matter 5",
            "description": "Leukoencephalopathy with vanishing white matter 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070367"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070367",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070367",
            "categories": []
        },
        {
            "id": "MONDO:0957873",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957873",
            "categories": []
        },
        {
            "id": "MIM:620315",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620315",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CHW4-1",
            "uniprot_ac": "Q8CHW4",
            "uniprot_id": "EI2BE_MOUSE",
            "refseq_ac": "NP_758469",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit epsilon isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b5",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHW4-1",
            "evidence": [
                {
                    "id": "0070367",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070367"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13144-1",
            "uniprot_ac": "Q13144",
            "uniprot_id": "EI2BE_HUMAN",
            "refseq_ac": "NP_003898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B5",
                    "type": "recommended"
                },
                {
                    "name": "CACH",
                    "type": "synonym"
                },
                {
                    "name": "CLE",
                    "type": "synonym"
                },
                {
                    "name": "EIF-2B",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B5",
                    "type": "synonym"
                },
                {
                    "name": "EIF2BE",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Bepsilon",
                    "type": "synonym"
                },
                {
                    "name": "LVWM",
                    "type": "synonym"
                },
                {
                    "name": "VWM5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13144-1",
            "evidence": [
                {
                    "id": "620315",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620315"
                },
                {
                    "id": "0070367",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070367"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32501-1",
            "uniprot_ac": "P32501",
            "uniprot_id": "EI2BE_YEAST",
            "refseq_ac": "NP_010497",
            "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 initiation factor eIF2B subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "GCD complex subunit GCD6",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor subunit GCD6",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B catalytic subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCD6",
                    "type": "recommended"
                },
                {
                    "name": "GCD6",
                    "type": "synonym"
                },
                {
                    "name": "TIF225",
                    "type": "synonym"
                },
                {
                    "name": "YD8142.12",
                    "type": "synonym"
                },
                {
                    "name": "YD8142B.03",
                    "type": "synonym"
                }
            ],
            "record_id": "P32501-1",
            "evidence": [
                {
                    "id": "0070367",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070367"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64350-1",
            "uniprot_ac": "Q64350",
            "uniprot_id": "EI2BE_RAT",
            "refseq_ac": "NP_620221",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit 5 epsilon",
                    "type": "synonym"
                },
                {
                    "name": "initiation factor eIF-2Be",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b5",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b5",
                    "type": "synonym"
                },
                {
                    "name": "Eif2be",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64350-1",
            "evidence": [
                {
                    "id": "0070367",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070367"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W541-1",
            "uniprot_ac": "Q9W541",
            "uniprot_id": "Q9W541_DROME",
            "refseq_ac": "NP_569961",
            "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 initiation factor eIF2B subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "CG3806-PA",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bepsilon-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit epsilon, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF2Bepsilon",
                    "type": "recommended"
                },
                {
                    "name": "CG3806",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3806",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3806",
                    "type": "synonym"
                },
                {
                    "name": "EG:86E4.1",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2bepsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bepsilon",
                    "type": "synonym"
                },
                {
                    "name": "elf2B-epsilon",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W541-1",
            "evidence": [
                {
                    "id": "0070367",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070367"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070367"
}