{
    "disease_id": "DOID:0051007",
    "recommended_name": {
        "id": "DOID:0051007",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051007",
        "name": "congenital nonspherocytic hemolytic anemia 8",
        "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14."
    },
    "synonyms": [
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency",
            "description": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported."
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "P5N deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "UMPH1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "anemia, congenital, nonspherocytic hemolytic, 8",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "anemia, hemolytic, due to UMPH1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "hemolytic anemia due to P5N deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "hemolytic anemia due to UMPH1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "uridine 5'-monophosphate hydrolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "hemolytic anaemia due to P5N deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "name": "hemolytic anaemia due to UMPH1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:266120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266120",
            "name": "P5N deficiency",
            "description": "P5N deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051007"
    ],
    "unlinked_id_list": []
}