{
    "disease_id": "DOID:0111459",
    "recommended_name": {
        "id": "DOID:0111459",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111459",
        "name": "classic galactosemia",
        "description": "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALT on chromosome 9p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111459",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111459",
            "name": "GALT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111459",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111459",
            "name": "galactose-1-phosphate uridyltransferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111459",
            "resource": "Disease Ontology",
            "url": "http://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": "galactosemia, Duarte variant",
            "description": ""
        },
        {
            "id": "MONDO:0009258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "name": "galactosemia, classic",
            "description": ""
        },
        {
            "id": "MONDO:0009258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009258",
            "name": "galactose-1-phosphate uridylyltransferase deficiency",
            "description": ""
        },
        {
            "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": "galactosemia type 1",
            "description": ""
        },
        {
            "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": "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": "classical galactosemia, homozygous duarte-type",
            "description": ""
        },
        {
            "id": "MIM:230400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/230400",
            "name": "Galactosemia 1",
            "description": "Galactosemia 1"
        }
    ]
}