{
    "disease_id": "DOID:0111459",
    "recommended_name": {
        "id": "DOID:0111459",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111459",
        "name": "classic galactosemia",
        "description": "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111459",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111459",
            "name": "GALT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111459",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111459",
            "name": "galactose-1-phosphate uridyltransferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111459",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111459",
            "name": "galactosemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "name": "classic galactosemia",
            "description": "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease."
        },
        {
            "id": "MONDO:0009258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "name": "GALT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "name": "classic galactosemia",
            "description": ""
        },
        {
            "id": "MONDO:0009258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "name": "galactose-1-phosphate uridyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "name": "galactosemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "name": "classical galactosemia, homozygous duarte-type",
            "description": ""
        },
        {
            "id": "MONDO:0009258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "name": "transferase deficiency",
            "description": ""
        },
        {
            "id": "MIM:230400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/230400",
            "name": "Galactosemia 1",
            "description": "Galactosemia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111459"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111459",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111459",
            "categories": []
        },
        {
            "id": "MONDO:0009258",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "categories": []
        },
        {
            "id": "MIM:230400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/230400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GKL4-1",
            "uniprot_ac": "A0AC58GKL4",
            "uniprot_id": "A0AC58GKL4_DANRE",
            "refseq_ac": "XP_073770280",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.12",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1-phosphate uridylyltransferase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "galt",
                    "type": "recommended"
                },
                {
                    "name": "galt",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158795",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GKL4-1",
            "evidence": [
                {
                    "id": "0111459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03249-1",
            "uniprot_ac": "Q03249",
            "uniprot_id": "GALT_MOUSE",
            "refseq_ac": "NP_057867",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.12",
                    "type": "synonym"
                },
                {
                    "name": "Gal-1-P uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose--hexose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "gal-1-P uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1-phosphate uridylyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galt",
                    "type": "recommended"
                },
                {
                    "name": "Galt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03249-1",
            "evidence": [
                {
                    "id": "0111459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07902-1",
            "uniprot_ac": "P07902",
            "uniprot_id": "GALT_HUMAN",
            "refseq_ac": "NP_000146",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.12",
                    "type": "synonym"
                },
                {
                    "name": "Gal-1-P uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose--hexose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "gal-1-P uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1-phosphate uridyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1-phosphate uridylyltransferase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GALT",
                    "type": "recommended"
                },
                {
                    "name": "GALT",
                    "type": "synonym"
                }
            ],
            "record_id": "P07902-1",
            "evidence": [
                {
                    "id": "230400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/230400"
                },
                {
                    "id": "0111459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08431-1",
            "uniprot_ac": "P08431",
            "uniprot_id": "GAL7_YEAST",
            "refseq_ac": "NP_009574",
            "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": "Galactose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.12",
                    "type": "synonym"
                },
                {
                    "name": "Gal-1-P uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose--hexose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose:hexose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAL7",
                    "type": "recommended"
                },
                {
                    "name": "GAL7",
                    "type": "synonym"
                },
                {
                    "name": "YBR0226",
                    "type": "synonym"
                }
            ],
            "record_id": "P08431-1",
            "evidence": [
                {
                    "id": "0111459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43424-1",
            "uniprot_ac": "P43424",
            "uniprot_id": "GALT_RAT",
            "refseq_ac": "NP_001013107",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.12",
                    "type": "synonym"
                },
                {
                    "name": "Gal-1-P uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose--hexose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "gal-1-P uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1-phosphate uridyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galt",
                    "type": "recommended"
                },
                {
                    "name": "Galt",
                    "type": "synonym"
                }
            ],
            "record_id": "P43424-1",
            "evidence": [
                {
                    "id": "0111459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111459"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMA2-1",
            "uniprot_ac": "Q9VMA2",
            "uniprot_id": "GALT_DROME",
            "refseq_ac": "NP_001260142",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable galactose-1-phosphate uridylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.12",
                    "type": "synonym"
                },
                {
                    "name": "CG9232-PB",
                    "type": "synonym"
                },
                {
                    "name": "Gal-1-P uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Galactose-1-phosphate uridylyltransferase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Galt-PB",
                    "type": "synonym"
                },
                {
                    "name": "UDP-glucose--hexose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1-phosphate uridyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1-phosphate uridylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-1P uridylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galt",
                    "type": "recommended"
                },
                {
                    "name": "CG9232",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9232",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9232",
                    "type": "synonym"
                },
                {
                    "name": "GALT",
                    "type": "synonym"
                },
                {
                    "name": "Galt",
                    "type": "synonym"
                },
                {
                    "name": "dGALT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMA2-1",
            "evidence": [
                {
                    "id": "0111459",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111459"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111459"
}