{
    "disease_id": "DOID:0111458",
    "recommended_name": {
        "id": "DOID:0111458",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111458",
        "name": "galactose epimerase deficiency",
        "description": "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111458",
            "name": "GALE deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111458",
            "name": "GALE-D",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111458",
            "name": "UDP-galactose-4-epimerase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111458",
            "name": "epimerase deficiency galactosemia",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111458",
            "name": "galactosemia III",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111458",
            "name": "galactosemia type 3",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111458",
            "name": "uridine diphosphate galactose-4-epimerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "galactose epimerase deficiency",
            "description": "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism."
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "GALE deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "GALE-D",
            "description": ""
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "UDP-galactose-4-epimerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "epimerase deficiency galactosemia",
            "description": ""
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "galactose epimerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "galactosemia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "uridine diphosphate galactose-4-epimerase deficiency",
            "description": ""
        },
        {
            "id": "MIM:230350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/230350",
            "name": "Galactosemia 3",
            "description": "Galactosemia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111458"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111458",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111458",
            "categories": []
        },
        {
            "id": "MONDO:0009257",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "categories": []
        },
        {
            "id": "MIM:230350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/230350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q5H4-1",
            "uniprot_ac": "F1Q5H4",
            "uniprot_id": "F1Q5H4_DANRE",
            "refseq_ac": "XP_005158580",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-glucose 4-epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.2",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose 4-epimerase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gale",
                    "type": "recommended"
                },
                {
                    "name": "fb05f01",
                    "type": "synonym"
                },
                {
                    "name": "gale",
                    "type": "synonym"
                },
                {
                    "name": "im:7147391",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb05f01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136578",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q5H4-1",
            "evidence": [
                {
                    "id": "0111458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R059-1",
            "uniprot_ac": "Q8R059",
            "uniprot_id": "GALE_MOUSE",
            "refseq_ac": "NP_001343422",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-glucose 4-epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.2",
                    "type": "synonym"
                },
                {
                    "name": "5.1.3.7",
                    "type": "synonym"
                },
                {
                    "name": "Galactowaldenase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactosamine 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "galactowaldenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gale",
                    "type": "recommended"
                },
                {
                    "name": "2310002A12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gale",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R059-1",
            "evidence": [
                {
                    "id": "0111458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14376-1",
            "uniprot_ac": "Q14376",
            "uniprot_id": "GALE_HUMAN",
            "refseq_ac": "NP_000394",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-glucose 4-epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.2",
                    "type": "synonym"
                },
                {
                    "name": "5.1.3.7",
                    "type": "synonym"
                },
                {
                    "name": "Galactowaldenase",
                    "type": "synonym"
                },
                {
                    "name": "UDP galactose-4'-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylgalactosamine 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "galactose-4-epimerase, UDP-",
                    "type": "synonym"
                },
                {
                    "name": "galactowaldenase",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 1E, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GALE",
                    "type": "recommended"
                },
                {
                    "name": "GALE",
                    "type": "synonym"
                },
                {
                    "name": "SDR1E1",
                    "type": "synonym"
                },
                {
                    "name": "THC13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14376-1",
            "evidence": [
                {
                    "id": "230350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/230350"
                },
                {
                    "id": "0111458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04397-1",
            "uniprot_ac": "P04397",
            "uniprot_id": "GAL10_YEAST",
            "refseq_ac": "NP_009575",
            "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": "Bifunctional protein GAL10",
                    "type": "recommended"
                },
                {
                    "name": "Galactose mutarotase",
                    "type": "synonym"
                },
                {
                    "name": "Galactowaldenase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional UDP-glucose 4-epimerase/aldose 1-epimerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAL10",
                    "type": "recommended"
                },
                {
                    "name": "GAL10",
                    "type": "synonym"
                },
                {
                    "name": "YBR0301",
                    "type": "synonym"
                }
            ],
            "record_id": "P04397-1",
            "evidence": [
                {
                    "id": "0111458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18645-1",
            "uniprot_ac": "P18645",
            "uniprot_id": "GALE_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": "UDP-glucose 4-epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.2",
                    "type": "synonym"
                },
                {
                    "name": "5.1.3.7",
                    "type": "synonym"
                },
                {
                    "name": "Galactowaldenase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactosamine 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose 4-epimerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gale",
                    "type": "recommended"
                }
            ],
            "record_id": "P18645-1",
            "evidence": [
                {
                    "id": "0111458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0P5-1",
            "uniprot_ac": "Q9W0P5",
            "uniprot_id": "GALE_DROME",
            "refseq_ac": "NP_001246537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "UDP-glucose 4-epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.2",
                    "type": "synonym"
                },
                {
                    "name": "5.1.3.7",
                    "type": "synonym"
                },
                {
                    "name": "CG12030-PB",
                    "type": "synonym"
                },
                {
                    "name": "Galactowaldenase",
                    "type": "synonym"
                },
                {
                    "name": "Gale-PB",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GalNAc 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylgalactosamine 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine 4-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-gal 4' epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose 4'-epimerase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "UDP-galactose 4-epimerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gale",
                    "type": "recommended"
                },
                {
                    "name": "CG12030",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12030",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12030",
                    "type": "synonym"
                },
                {
                    "name": "GALE",
                    "type": "synonym"
                },
                {
                    "name": "Gale",
                    "type": "synonym"
                },
                {
                    "name": "dGALE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0P5-1",
            "evidence": [
                {
                    "id": "0111458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111458"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111458"
}