{
    "disease_id": "DOID:0070372",
    "recommended_name": {
        "id": "DOID:0070372",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070372",
        "name": "leukoencephalopathy with vanishing white matter 3",
        "description": "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0957871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957871",
            "name": "leukoencephalopathy with vanishing white matter 3",
            "description": ""
        },
        {
            "id": "MIM:620313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620313",
            "name": "Leukoencephalopathy with vanishing white matter 3",
            "description": "Leukoencephalopathy with vanishing white matter 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070372"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070372",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070372",
            "categories": []
        },
        {
            "id": "MONDO:0957871",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957871",
            "categories": []
        },
        {
            "id": "MIM:620313",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620313",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B1AUN2-1",
            "uniprot_ac": "B1AUN2",
            "uniprot_id": "B1AUN2_MOUSE",
            "refseq_ac": "NP_001104747",
            "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 gamma",
                    "type": "recommended"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b3",
                    "type": "recommended"
                },
                {
                    "name": "1190002P15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b3",
                    "type": "synonym"
                }
            ],
            "record_id": "B1AUN2-1",
            "evidence": [
                {
                    "id": "0070372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070372"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NR50-1",
            "uniprot_ac": "Q9NR50",
            "uniprot_id": "EI2BG_HUMAN",
            "refseq_ac": "NP_001160060",
            "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 gamma",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B3",
                    "type": "recommended"
                },
                {
                    "name": "EIF-2B",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B3",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Bgamma",
                    "type": "synonym"
                },
                {
                    "name": "VWM3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NR50-1",
            "evidence": [
                {
                    "id": "620313",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620313"
                },
                {
                    "id": "0070372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070372"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09032-1",
            "uniprot_ac": "P09032",
            "uniprot_id": "EI2BG_YEAST",
            "refseq_ac": "NP_014903",
            "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 gamma",
                    "type": "recommended"
                },
                {
                    "name": "GCD complex subunit GCD1",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor subunit GCD1",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCD1",
                    "type": "recommended"
                },
                {
                    "name": "GCD1",
                    "type": "synonym"
                },
                {
                    "name": "TIF223",
                    "type": "synonym"
                },
                {
                    "name": "TRA3",
                    "type": "synonym"
                }
            ],
            "record_id": "P09032-1",
            "evidence": [
                {
                    "id": "0070372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070372"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70541-1",
            "uniprot_ac": "P70541",
            "uniprot_id": "EI2BG_RAT",
            "refseq_ac": "NP_598293",
            "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 gamma",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b3",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b3",
                    "type": "synonym"
                },
                {
                    "name": "Eif2bg",
                    "type": "synonym"
                }
            ],
            "record_id": "P70541-1",
            "evidence": [
                {
                    "id": "0070372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070372"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZA22-1",
            "uniprot_ac": "A1ZA22",
            "uniprot_id": "A1ZA22_DROME",
            "refseq_ac": "NP_611046",
            "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 gamma",
                    "type": "recommended"
                },
                {
                    "name": "CG8190-PA",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bgamma-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF2Bgamma",
                    "type": "recommended"
                },
                {
                    "name": "CG8190",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8190",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8190",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bgamma",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZA22-1",
            "evidence": [
                {
                    "id": "0070372",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070372"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070372"
}