{
    "disease_id": "DOID:0070373",
    "recommended_name": {
        "id": "DOID:0070373",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070373",
        "name": "leukoencephalopathy with vanishing white matter 2",
        "description": "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0957870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957870",
            "name": "leukoencephalopathy with vanishing white matter 2",
            "description": ""
        },
        {
            "id": "MIM:620312",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620312",
            "name": "Leukoencephalopathy with vanishing white matter 2",
            "description": "Leukoencephalopathy with vanishing white matter 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070373"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070373",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070373",
            "categories": []
        },
        {
            "id": "MONDO:0957870",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957870",
            "categories": []
        },
        {
            "id": "MIM:620312",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620312",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99LD9-1",
            "uniprot_ac": "Q99LD9",
            "uniprot_id": "EI2BB_MOUSE",
            "refseq_ac": "NP_663420",
            "glycoprotein": "no",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b2",
                    "type": "recommended"
                },
                {
                    "name": "EIF-2Bbeta",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LD9-1",
            "evidence": [
                {
                    "id": "0070373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070373"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49770-1",
            "uniprot_ac": "P49770",
            "uniprot_id": "EI2BB_HUMAN",
            "refseq_ac": "NP_055054",
            "glycoprotein": "no",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "S20I15",
                    "type": "synonym"
                },
                {
                    "name": "S20III15",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B2",
                    "type": "recommended"
                },
                {
                    "name": "EIF-2Bbeta",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B2",
                    "type": "synonym"
                },
                {
                    "name": "EIF2BB",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Bbeta",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B",
                    "type": "synonym"
                },
                {
                    "name": "VWM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49770-1",
            "evidence": [
                {
                    "id": "620312",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620312"
                },
                {
                    "id": "0070373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070373"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32502-1",
            "uniprot_ac": "P32502",
            "uniprot_id": "EI2BB_YEAST",
            "refseq_ac": "NP_013394",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "GCD complex subunit GCD7",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor subunit GCD7",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCD7",
                    "type": "recommended"
                },
                {
                    "name": "GCD7",
                    "type": "synonym"
                },
                {
                    "name": "L8003.17",
                    "type": "synonym"
                },
                {
                    "name": "TIF222",
                    "type": "synonym"
                }
            ],
            "record_id": "P32502-1",
            "evidence": [
                {
                    "id": "0070373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070373"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62818-1",
            "uniprot_ac": "Q62818",
            "uniprot_id": "EI2BB_RAT",
            "refseq_ac": "",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b2",
                    "type": "recommended"
                },
                {
                    "name": "Eif2bb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62818-1",
            "evidence": [
                {
                    "id": "0070373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070373"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63016-1",
            "uniprot_ac": "P63016",
            "uniprot_id": "PAX6_RAT",
            "refseq_ac": "NP_037133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-6",
                    "type": "recommended"
                },
                {
                    "name": "Oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box homeotic gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax6",
                    "type": "recommended"
                },
                {
                    "name": "Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "Pax6",
                    "type": "synonym"
                },
                {
                    "name": "Sey",
                    "type": "synonym"
                }
            ],
            "record_id": "P63016-1",
            "evidence": [
                {
                    "id": "0070373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070373"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76863-1",
            "uniprot_ac": "O76863",
            "uniprot_id": "O76863_DROME",
            "refseq_ac": "NP_570020",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "CG2677-PA",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bbeta-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF2Bbeta",
                    "type": "recommended"
                },
                {
                    "name": "CG2677",
                    "type": "synonym"
                },
                {
                    "name": "DMC100G10.3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2677",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2677",
                    "type": "synonym"
                },
                {
                    "name": "EG:100G10.3",
                    "type": "synonym"
                },
                {
                    "name": "EIF2b",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-b",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bbeta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2beta",
                    "type": "synonym"
                }
            ],
            "record_id": "O76863-1",
            "evidence": [
                {
                    "id": "0070373",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070373"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070373"
}