{
    "disease_id": "DOID:0070371",
    "recommended_name": {
        "id": "DOID:0070371",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070371",
        "name": "leukoencephalopathy with vanishing white matter 4",
        "description": "A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "MONDO:0957872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957872",
            "name": "leukoencephalopathy with vanishing white matter 4",
            "description": ""
        },
        {
            "id": "MIM:620314",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620314",
            "name": "Leukoencephalopathy with vanishing white matter 4",
            "description": "Leukoencephalopathy with vanishing white matter 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070371"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070371",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070371",
            "categories": []
        },
        {
            "id": "MONDO:0957872",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957872",
            "categories": []
        },
        {
            "id": "MIM:620314",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620314",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B7A1-1",
            "uniprot_ac": "A0A8M2B7A1",
            "uniprot_id": "A0A8M2B7A1_DANRE",
            "refseq_ac": "XP_005160517",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eif2b4",
                    "type": "recommended"
                },
                {
                    "name": "eif2b4",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-101l18.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb54a09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110790",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B7A1-1",
            "evidence": [
                {
                    "id": "0070371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61749-1",
            "uniprot_ac": "Q61749",
            "uniprot_id": "EI2BD_MOUSE",
            "refseq_ac": "NP_001120827",
            "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 delta",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b4",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b4",
                    "type": "synonym"
                },
                {
                    "name": "Eif2bd",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b",
                    "type": "synonym"
                },
                {
                    "name": "Jgr1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61749-1",
            "evidence": [
                {
                    "id": "0070371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI10-1",
            "uniprot_ac": "Q9UI10",
            "uniprot_id": "EI2BD_HUMAN",
            "refseq_ac": "NP_001029288",
            "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 delta",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit 4 delta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2b delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B4",
                    "type": "recommended"
                },
                {
                    "name": "EIF-2B",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B4",
                    "type": "synonym"
                },
                {
                    "name": "EIF2BD",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Bdelta",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B",
                    "type": "synonym"
                },
                {
                    "name": "VWM4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI10-1",
            "evidence": [
                {
                    "id": "620314",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620314"
                },
                {
                    "id": "0070371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12754-1",
            "uniprot_ac": "P12754",
            "uniprot_id": "EI2BD_YEAST",
            "refseq_ac": "NP_011597",
            "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": "Translation initiation factor eIF2B subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "GCD complex subunit GCD2",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor subunit GCD2",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCD2",
                    "type": "recommended"
                },
                {
                    "name": "GCD12",
                    "type": "synonym"
                },
                {
                    "name": "GCD2",
                    "type": "synonym"
                },
                {
                    "name": "TIF224",
                    "type": "synonym"
                }
            ],
            "record_id": "P12754-1",
            "evidence": [
                {
                    "id": "0070371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63186-1",
            "uniprot_ac": "Q63186",
            "uniprot_id": "EI2BD_RAT",
            "refseq_ac": "NP_446402",
            "glycoprotein": "yes",
            "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 delta",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 4 delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b4",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b4",
                    "type": "synonym"
                },
                {
                    "name": "Eif2bd",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63186-1",
            "evidence": [
                {
                    "id": "0070371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1Q8-1",
            "uniprot_ac": "Q9W1Q8",
            "uniprot_id": "Q9W1Q8_DROME",
            "refseq_ac": "NP_611790",
            "glycoprotein": "yes",
            "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 delta",
                    "type": "recommended"
                },
                {
                    "name": "CG10315-PA",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bdelta-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit delta, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF2Bdelta",
                    "type": "recommended"
                },
                {
                    "name": "CG10315",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10315",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10315",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bdelta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1Q8-1",
            "evidence": [
                {
                    "id": "0070371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070371"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070371"
}