{
    "disease_id": "DOID:0050833",
    "recommended_name": {
        "id": "DOID:0050833",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050833",
        "name": "orotic aciduria",
        "description": "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine."
    },
    "synonyms": [
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "orotic aciduria",
            "description": "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine."
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "Hereditary Orotic Aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "orotic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "oroticaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "orotidylic decarboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "uridine monophosphate synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "UMP synthtase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "UMPS",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "orotate phosphoribosyltransferase and OMP decarboxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "orotic aciduria II (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "orotic aciduria type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "orotic aciduria without megaloblastic Anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0009797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009797",
            "name": "oroticaciduria 1",
            "description": ""
        },
        {
            "id": "MIM:258900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/258900",
            "name": "Orotic aciduria 1",
            "description": "Orotic aciduria 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050833"
    ],
    "unlinked_id_list": []
}