{
    "disease_id": "DOID:0060996",
    "recommended_name": {
        "id": "DOID:0060996",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060996",
        "name": "poor metabolism of thiopurines 2",
        "description": "A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0014826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014826",
            "name": "obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014826",
            "name": "NUDT15D",
            "description": ""
        },
        {
            "id": "MONDO:0014826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014826",
            "name": "nucleoside diphosphate-linked moiety X Motif 15 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014826",
            "name": "nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D",
            "description": ""
        },
        {
            "id": "MONDO:0014826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014826",
            "name": "THPM2",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060996"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060996",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060996",
            "categories": []
        },
        {
            "id": "MONDO:0014826",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014826",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8RL21-1",
            "uniprot_ac": "A0A2R8RL21",
            "uniprot_id": "A0A2R8RL21_DANRE",
            "refseq_ac": "NP_001333095",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide triphosphate diphosphatase NUDT15",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.68",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.76",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.9",
                    "type": "synonym"
                },
                {
                    "name": "MutT homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside diphosphate-linked moiety X motif 15",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside diphosphate-linked to another moiety X hydrolase 15",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide triphosphate diphosphatase NUDT15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nudt15",
                    "type": "recommended"
                },
                {
                    "name": "nudt15",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86852",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8RL21-1",
            "evidence": [
                {
                    "id": "0060996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BG93-1",
            "uniprot_ac": "Q8BG93",
            "uniprot_id": "NUD15_MOUSE",
            "refseq_ac": "NP_766115",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide triphosphate diphosphatase NUDT15",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.68",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.76",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.9",
                    "type": "synonym"
                },
                {
                    "name": "7,8-dihydro-8-oxoguanine-triphosphatase NUDT15",
                    "type": "synonym"
                },
                {
                    "name": "8-oxo-dGTPase NUDT15",
                    "type": "synonym"
                },
                {
                    "name": "MutT homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside diphosphate-linked moiety X motif 15",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside diphosphate-linked to another moiety X hydrolase 15",
                    "type": "synonym"
                },
                {
                    "name": "Nudix hydrolase 15",
                    "type": "synonym"
                },
                {
                    "name": "Nudix motif 15",
                    "type": "synonym"
                },
                {
                    "name": "mMTH2",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside diphosphate-linked moiety X motif 15",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside diphosphate-linked to another moiety X hydrolase 15",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide triphosphate diphosphatase NUDT15",
                    "type": "synonym"
                },
                {
                    "name": "nudix (nucleoside diphosphate linked moiety X)-type motif 15",
                    "type": "synonym"
                },
                {
                    "name": "nudix motif 15",
                    "type": "synonym"
                },
                {
                    "name": "probable 7,8-dihydro-8-oxoguanine triphosphatase NUDT15",
                    "type": "synonym"
                },
                {
                    "name": "probable 8-oxo-dGTP diphosphatase NUDT15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nudt15",
                    "type": "recommended"
                },
                {
                    "name": "6530403O17",
                    "type": "synonym"
                },
                {
                    "name": "A730068G11Rik",
                    "type": "synonym"
                },
                {
                    "name": "MTH2",
                    "type": "synonym"
                },
                {
                    "name": "Mth2",
                    "type": "synonym"
                },
                {
                    "name": "Nudt15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BG93-1",
            "evidence": [
                {
                    "id": "0060996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NV35-1",
            "uniprot_ac": "Q9NV35",
            "uniprot_id": "NUD15_HUMAN",
            "refseq_ac": "NP_001291674",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide triphosphate diphosphatase NUDT15",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.68",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.76",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.9",
                    "type": "synonym"
                },
                {
                    "name": "8-oxo-dGTPase NUDT15",
                    "type": "synonym"
                },
                {
                    "name": "MTH2",
                    "type": "synonym"
                },
                {
                    "name": "MutT homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside diphosphate-linked moiety X motif 15",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside diphosphate-linked to another moiety X hydrolase 15",
                    "type": "synonym"
                },
                {
                    "name": "Nudix hydrolase 15",
                    "type": "synonym"
                },
                {
                    "name": "Nudix motif 15",
                    "type": "synonym"
                },
                {
                    "name": "mutT homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleoside diphosphate-linked to another moiety X hydrolase 15",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide triphosphate diphosphatase NUDT15 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide triphosphate diphosphatase NUDT15",
                    "type": "synonym"
                },
                {
                    "name": "nudix (nucleoside diphosphate linked moiety X)-type motif 15",
                    "type": "synonym"
                },
                {
                    "name": "probable 7,8-dihydro-8-oxoguanine triphosphatase NUDT15",
                    "type": "synonym"
                },
                {
                    "name": "probable 8-oxo-dGTP diphosphatase NUDT15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUDT15",
                    "type": "recommended"
                },
                {
                    "name": "MTH2",
                    "type": "synonym"
                },
                {
                    "name": "NUDT15D",
                    "type": "synonym"
                },
                {
                    "name": "NUDT15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NV35-1",
            "evidence": [
                {
                    "id": "616903",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616903"
                },
                {
                    "id": "0060996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060996"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M5Z8-1",
            "uniprot_ac": "A0ABK0M5Z8",
            "uniprot_id": "A0ABK0M5Z8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide triphosphate diphosphatase NUDT15",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.68",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.76",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.9",
                    "type": "synonym"
                },
                {
                    "name": "MutT homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside diphosphate-linked moiety X motif 15",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoside diphosphate-linked to another moiety X hydrolase 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nudt15",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M5Z8-1",
            "evidence": [
                {
                    "id": "0060996",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060996"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060996"
}