{
    "disease_id": "DOID:0060969",
    "recommended_name": {
        "id": "DOID:0060969",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060969",
        "name": "galactosemia 4",
        "description": "A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22."
    },
    "synonyms": [
        {
            "id": "DOID:0060969",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060969",
            "name": "GALM deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060969",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060969",
            "name": "Galactose mutarotase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060969",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060969",
            "name": "Galactosemia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0030105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030105",
            "name": "galactosemia 4",
            "description": ""
        },
        {
            "id": "MONDO:0030105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030105",
            "name": "GALAC4",
            "description": ""
        },
        {
            "id": "MONDO:0030105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030105",
            "name": "GALACTOSEMIA IV",
            "description": ""
        },
        {
            "id": "MONDO:0030105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030105",
            "name": "Galactose Mutarotase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030105",
            "name": "galactosemia iv",
            "description": ""
        },
        {
            "id": "MONDO:0030105",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030105",
            "name": "GALM mutarotase deficiency",
            "description": ""
        },
        {
            "id": "MIM:618881",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618881",
            "name": "Galactosemia 4",
            "description": "Galactosemia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060969"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060969",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060969",
            "categories": []
        },
        {
            "id": "MONDO:0030105",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030105",
            "categories": []
        },
        {
            "id": "MIM:618881",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618881",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K157-1",
            "uniprot_ac": "Q8K157",
            "uniprot_id": "GALM_MOUSE",
            "refseq_ac": "NP_795937",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactose mutarotase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "Aldose 1-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "aldose 1-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "galactose mutarotase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galm",
                    "type": "recommended"
                },
                {
                    "name": "A530057M15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Galm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K157-1",
            "evidence": [
                {
                    "id": "0060969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96C23-1",
            "uniprot_ac": "Q96C23",
            "uniprot_id": "GALM_HUMAN",
            "refseq_ac": "NP_620156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactose mutarotase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "Aldose 1-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "aldose 1-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "aldose mutarotase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 63p",
                    "type": "synonym"
                },
                {
                    "name": "galactomutarotase",
                    "type": "synonym"
                },
                {
                    "name": "galactose enzyme activator",
                    "type": "synonym"
                },
                {
                    "name": "galactose mutarotase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GALM",
                    "type": "recommended"
                },
                {
                    "name": "BLOCK25",
                    "type": "synonym"
                },
                {
                    "name": "GALAC4",
                    "type": "synonym"
                },
                {
                    "name": "GALM",
                    "type": "synonym"
                },
                {
                    "name": "GLAT",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-63p",
                    "type": "synonym"
                },
                {
                    "name": "IBD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96C23-1",
            "evidence": [
                {
                    "id": "618881",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618881"
                },
                {
                    "id": "0060969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53757-1",
            "uniprot_ac": "P53757",
            "uniprot_id": "YN9A_YEAST",
            "refseq_ac": "NP_014469",
            "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": "Uncharacterized isomerase YNR071C",
                    "type": "recommended"
                },
                {
                    "name": "5.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "aldose 1-epimerase superfamily protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "N3605",
                    "type": "synonym"
                }
            ],
            "record_id": "P53757-1",
            "evidence": [
                {
                    "id": "0060969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38893-1",
            "uniprot_ac": "P38893",
            "uniprot_id": "YH10_YEAST",
            "refseq_ac": "NP_012080",
            "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": "Uncharacterized isomerase YHR210C",
                    "type": "recommended"
                },
                {
                    "name": "5.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "aldose 1-epimerase superfamily protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [],
            "record_id": "P38893-1",
            "evidence": [
                {
                    "id": "0060969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q66HG4-1",
            "uniprot_ac": "Q66HG4",
            "uniprot_id": "GALM_RAT",
            "refseq_ac": "NP_001007705",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactose mutarotase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "Aldose 1-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "aldose 1-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "galactose mutarotase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galm",
                    "type": "recommended"
                },
                {
                    "name": "Galm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66HG4-1",
            "evidence": [
                {
                    "id": "0060969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRU1-1",
            "uniprot_ac": "Q9VRU1",
            "uniprot_id": "Q9VRU1_DROME",
            "refseq_ac": "NP_648026",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldose 1-epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "CG10467-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galm2",
                    "type": "recommended"
                },
                {
                    "name": "CG10467",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10467",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10467",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRU1-1",
            "evidence": [
                {
                    "id": "0060969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKF7-1",
            "uniprot_ac": "Q9VKF7",
            "uniprot_id": "Q9VKF7_DROME",
            "refseq_ac": "NP_609514",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldose 1-epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "CG4988-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galml3",
                    "type": "recommended"
                },
                {
                    "name": "CG4988",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4988",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4988",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKF7-1",
            "evidence": [
                {
                    "id": "0060969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VY83-1",
            "uniprot_ac": "Q9VY83",
            "uniprot_id": "Q9VY83_DROME",
            "refseq_ac": "NP_572924",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galactose mutarotase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "Aldose 1-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "CG10996-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galml2",
                    "type": "recommended"
                },
                {
                    "name": "CG10996",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10996",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10996",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VY83-1",
            "evidence": [
                {
                    "id": "0060969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VP02-1",
            "uniprot_ac": "Q9VP02",
            "uniprot_id": "Q9VP02_DROME",
            "refseq_ac": "NP_730670",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldose 1-epimerase",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.3",
                    "type": "synonym"
                },
                {
                    "name": "CG32444-PA",
                    "type": "synonym"
                },
                {
                    "name": "aldose 1-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galm1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH08902",
                    "type": "synonym"
                },
                {
                    "name": "CG12562",
                    "type": "synonym"
                },
                {
                    "name": "CG14576",
                    "type": "synonym"
                },
                {
                    "name": "CG32444",
                    "type": "synonym"
                },
                {
                    "name": "CT3430",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32444",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32444",
                    "type": "synonym"
                },
                {
                    "name": "aldose 1-epi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VP02-1",
            "evidence": [
                {
                    "id": "0060969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060969"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060969"
}