{
    "disease_id": "DOID:0111458",
    "recommended_name": {
        "id": "DOID:0111458",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111458",
        "name": "galactose epimerase deficiency",
        "description": "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111458",
            "name": "GALE deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111458",
            "name": "GALE-D",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111458",
            "name": "UDP-galactose-4-epimerase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111458",
            "name": "epimerase deficiency galactosemia",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111458",
            "name": "galactosemia III",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111458",
            "name": "galactosemia type 3",
            "description": ""
        },
        {
            "id": "DOID:0111458",
            "resource": "Disease Ontology",
            "url": "http://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 (see this term) characterized by moderate to severe signs of impaired galactose metabolism."
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "galactosemia 3",
            "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": "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": "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": "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": "UDP-galactose-4-epimerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009257",
            "name": "epimerase deficiency galactosemia",
            "description": ""
        },
        {
            "id": "MIM:230350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/230350",
            "name": "Galactosemia 3",
            "description": "Galactosemia 3"
        }
    ]
}