{
    "disease_id": "DOID:0080172",
    "recommended_name": {
        "id": "DOID:0080172",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080172",
        "name": "poor metabolism of thiopurines",
        "description": "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines."
    },
    "synonyms": [
        {
            "id": "DOID:0080172",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080172",
            "name": "thiopurine S-methyltransferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0080172",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080172",
            "name": "TPMT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "thiopurine S-methyltransferase deficiency",
            "description": "An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity."
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "TPMT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "inborn error of thiopurine S-methyltransferase activity",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "inborn thiopurine S-methyltransferase activity disorder",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "poor metabolism of thiopurines-1",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "rare inborn error of thiopurine S-methyltransferase activity",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "thiopurine S-methyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "6-mercaptopurine sensitivity",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "THPM1",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "thiopurine S methyltranferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "name": "thiopurine methyltransferase deficiency",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0060996",
            "label": "poor metabolism of thiopurines 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061004",
            "label": "poor metabolism of thiopurines 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080172",
        "DOID:0061004",
        "DOID:0060996"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080172",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080172",
            "categories": []
        },
        {
            "id": "MONDO:0012503",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012503",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q504A5-1",
            "uniprot_ac": "Q504A5",
            "uniprot_id": "TPMT_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": "Probable thiopurine S-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.67",
                    "type": "synonym"
                },
                {
                    "name": "Thiopurine methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tpmt.1",
                    "type": "recommended"
                },
                {
                    "name": "tpmt",
                    "type": "recommended"
                },
                {
                    "name": "si:ch73-345a19.2",
                    "type": "synonym"
                },
                {
                    "name": "tpmt",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109981",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92752",
                    "type": "synonym"
                }
            ],
            "record_id": "Q504A5-1",
            "evidence": [
                {
                    "id": "0080172",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080172"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55060-1",
            "uniprot_ac": "O55060",
            "uniprot_id": "TPMT_MOUSE",
            "refseq_ac": "NP_058065",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiopurine S-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.67",
                    "type": "synonym"
                },
                {
                    "name": "Thiopurine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "thiopurine S-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpmt",
                    "type": "recommended"
                },
                {
                    "name": "Tpmt",
                    "type": "synonym"
                }
            ],
            "record_id": "O55060-1",
            "evidence": [
                {
                    "id": "0080172",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080172"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51580-1",
            "uniprot_ac": "P51580",
            "uniprot_id": "TPMT_HUMAN",
            "refseq_ac": "NP_000358",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiopurine S-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.67",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:thiopurine S-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Thiopurine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "thiopurine S-methyltransferase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPMT",
                    "type": "recommended"
                },
                {
                    "name": "TPMTD",
                    "type": "synonym"
                },
                {
                    "name": "TPMT",
                    "type": "synonym"
                }
            ],
            "record_id": "P51580-1",
            "evidence": [
                {
                    "id": "610460",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610460"
                },
                {
                    "id": "0080172",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080172"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0T0-1",
            "uniprot_ac": "Q9Z0T0",
            "uniprot_id": "TPMT_RAT",
            "refseq_ac": "NP_001382599",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thiopurine S-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.67",
                    "type": "synonym"
                },
                {
                    "name": "Thiopurine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "thiopurine S-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "thiopurine methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpmt",
                    "type": "recommended"
                },
                {
                    "name": "Tpmt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0T0-1",
            "evidence": [
                {
                    "id": "0080172",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080172"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080172"
}