{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0051007",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051007",
            "categories": []
        },
        {
            "id": "MONDO:0009946",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009946",
            "categories": []
        },
        {
            "id": "MIM:266120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/266120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SYN4-1",
            "uniprot_ac": "Q7SYN4",
            "uniprot_id": "5NT3_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic 5'-nucleotidase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic 5'-nucleotidase III",
                    "type": "synonym"
                },
                {
                    "name": "cN-III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nt5c3a",
                    "type": "recommended"
                },
                {
                    "name": "nt5c3",
                    "type": "recommended"
                },
                {
                    "name": "fb30h07",
                    "type": "synonym"
                },
                {
                    "name": "nt5c3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb30h07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66117",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SYN4-1",
            "evidence": [
                {
                    "id": "0051007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D020-3",
            "uniprot_ac": "Q9D020",
            "uniprot_id": "5NT3A_MOUSE",
            "refseq_ac": "NP_001239303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic 5'-nucleotidase 3A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.91",
                    "type": "synonym"
                },
                {
                    "name": "5'-nucleotidase, pyrimidine",
                    "type": "synonym"
                },
                {
                    "name": "7-methylguanosine nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "7-methylguanosine phosphate-specific 5'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic 5'-nucleotidase 3",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic 5'-nucleotidase III",
                    "type": "synonym"
                },
                {
                    "name": "Lupin",
                    "type": "synonym"
                },
                {
                    "name": "P5'N-1",
                    "type": "synonym"
                },
                {
                    "name": "P5N-1",
                    "type": "synonym"
                },
                {
                    "name": "PN-I",
                    "type": "synonym"
                },
                {
                    "name": "Pyrimidine 5'-nucleotidase 1",
                    "type": "synonym"
                },
                {
                    "name": "cN-III",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase 3A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase 3A",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase 3",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase III",
                    "type": "synonym"
                },
                {
                    "name": "pyrimidine 5'-nucleotidase 1",
                    "type": "synonym"
                },
                {
                    "name": "uridine monophosphatase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nt5c3a",
                    "type": "recommended"
                },
                {
                    "name": "1600024P05Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610206B05Rik",
                    "type": "synonym"
                },
                {
                    "name": "3110004A18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nt5c3a",
                    "type": "synonym"
                },
                {
                    "name": "Nt5c3",
                    "type": "synonym"
                },
                {
                    "name": "Nt5y",
                    "type": "synonym"
                },
                {
                    "name": "P5'N-1",
                    "type": "synonym"
                },
                {
                    "name": "P5N-1",
                    "type": "synonym"
                },
                {
                    "name": "PN-1",
                    "type": "synonym"
                },
                {
                    "name": "PN-I",
                    "type": "synonym"
                },
                {
                    "name": "PSN1",
                    "type": "synonym"
                },
                {
                    "name": "UMPH",
                    "type": "synonym"
                },
                {
                    "name": "Umph-1",
                    "type": "synonym"
                },
                {
                    "name": "Umph1",
                    "type": "synonym"
                },
                {
                    "name": "cN-III",
                    "type": "synonym"
                },
                {
                    "name": "lupin",
                    "type": "synonym"
                },
                {
                    "name": "p36",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D020-3",
            "evidence": [
                {
                    "id": "0051007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H0P0-4",
            "uniprot_ac": "Q9H0P0",
            "uniprot_id": "5NT3A_HUMAN",
            "refseq_ac": "NP_001002009",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic 5'-nucleotidase 3A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.91",
                    "type": "synonym"
                },
                {
                    "name": "5'-nucleotidase, cytosolic III",
                    "type": "synonym"
                },
                {
                    "name": "7-methylguanosine nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "7-methylguanosine phosphate-specific 5'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic 5'-nucleotidase 3",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic 5'-nucleotidase III",
                    "type": "synonym"
                },
                {
                    "name": "P5'N-1",
                    "type": "synonym"
                },
                {
                    "name": "P5N-1",
                    "type": "synonym"
                },
                {
                    "name": "PN-I",
                    "type": "synonym"
                },
                {
                    "name": "Pyrimidine 5'-nucleotidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Uridine 5'-monophosphate hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "cN-III",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase 3A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase 3A",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase 3",
                    "type": "synonym"
                },
                {
                    "name": "lupin",
                    "type": "synonym"
                },
                {
                    "name": "p36",
                    "type": "synonym"
                },
                {
                    "name": "pyrimidine 5'-nucleotidase 1",
                    "type": "synonym"
                },
                {
                    "name": "uridine 5'-monophosphate hydrolase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NT5C3A",
                    "type": "recommended"
                },
                {
                    "name": "CNSHA8",
                    "type": "synonym"
                },
                {
                    "name": "HSPC233",
                    "type": "synonym"
                },
                {
                    "name": "NT5C3A",
                    "type": "synonym"
                },
                {
                    "name": "NT5C3",
                    "type": "synonym"
                },
                {
                    "name": "P5'N-1",
                    "type": "synonym"
                },
                {
                    "name": "P5N-1",
                    "type": "synonym"
                },
                {
                    "name": "P5N1",
                    "type": "synonym"
                },
                {
                    "name": "PN-I",
                    "type": "synonym"
                },
                {
                    "name": "POMP",
                    "type": "synonym"
                },
                {
                    "name": "PSN1",
                    "type": "synonym"
                },
                {
                    "name": "UMPH1",
                    "type": "synonym"
                },
                {
                    "name": "UMPH",
                    "type": "synonym"
                },
                {
                    "name": "cN-III",
                    "type": "synonym"
                },
                {
                    "name": "hUMP1",
                    "type": "synonym"
                },
                {
                    "name": "p36",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H0P0-4",
            "evidence": [
                {
                    "id": "266120",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/266120"
                },
                {
                    "id": "0051007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AHB0-1",
            "uniprot_ac": "A0A8I6AHB0",
            "uniprot_id": "A0A8I6AHB0_RAT",
            "refseq_ac": "NP_001385770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-nucleotidase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "5'-nucleotidase, cytosolic III",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase 3A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase 3A",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nt5c3a",
                    "type": "recommended"
                },
                {
                    "name": "Nt5c3a",
                    "type": "synonym"
                },
                {
                    "name": "Nt5c3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AHB0-1",
            "evidence": [
                {
                    "id": "0051007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W197-1",
            "uniprot_ac": "Q9W197",
            "uniprot_id": "5NT3B_DROME",
            "refseq_ac": "NP_611895",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "7-methylguanosine phosphate-specific 5'-nucleotidase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.5",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.91",
                    "type": "synonym"
                },
                {
                    "name": "7-methylguanosine nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "CG3362-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic 5'-nucleotidase IIIB",
                    "type": "synonym"
                },
                {
                    "name": "N(7)-methylguanylate 5'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "cN-IIIB-PA",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic 5'-nucleotidase IIIB",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic nucleotidase III-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cN-IIIB",
                    "type": "recommended"
                },
                {
                    "name": "16769374",
                    "type": "synonym"
                },
                {
                    "name": "CG3362",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3362",
                    "type": "synonym"
                },
                {
                    "name": "cN-IIIB",
                    "type": "synonym"
                },
                {
                    "name": "cNIII-like",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W197-1",
            "evidence": [
                {
                    "id": "0051007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051007"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051007"
}