{
    "disease_id": "DOID:0050465",
    "recommended_name": {
        "id": "DOID:0050465",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050465",
        "name": "Muir-Torre syndrome",
        "description": "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes."
    },
    "synonyms": [
        {
            "id": "MONDO:0008018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008018",
            "name": "Muir-Torre syndrome",
            "description": "Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma."
        },
        {
            "id": "MONDO:0008018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008018",
            "name": "Muir-Torre syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008018",
            "name": "multiple keratoacanthoma, Muir-Torre type",
            "description": ""
        },
        {
            "id": "MONDO:0008018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008018",
            "name": "MRTES",
            "description": ""
        },
        {
            "id": "MONDO:0008018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008018",
            "name": "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas",
            "description": ""
        },
        {
            "id": "MIM:158320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158320",
            "name": "Muir-Torre syndrome",
            "description": "Muir-Torre syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050465"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050465",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050465",
            "categories": []
        },
        {
            "id": "MONDO:0008018",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008018",
            "categories": []
        },
        {
            "id": "MIM:158320",
            "database": "MIM",
            "url": "https://www.omim.org/entry/158320",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13AAI6-1",
            "uniprot_ac": "A0AB13AAI6",
            "uniprot_id": "A0AB13AAI6_DANRE",
            "refseq_ac": "NP_001417993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein MLH1",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Mlh1",
                    "type": "synonym"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mlh1",
                    "type": "recommended"
                },
                {
                    "name": "mlh1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66301",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13AAI6-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O89106-1",
            "uniprot_ac": "O89106",
            "uniprot_id": "FHIT_MOUSE",
            "refseq_ac": "NP_001295215",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bis(5'-adenosyl)-triphosphatase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.51",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.29",
                    "type": "synonym"
                },
                {
                    "name": "3.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "3.9.1.-",
                    "type": "synonym"
                },
                {
                    "name": "AP3A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "AP3Aase",
                    "type": "synonym"
                },
                {
                    "name": "Adenosine 5'-monophosphoramidase FHIT",
                    "type": "synonym"
                },
                {
                    "name": "Adenylylsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylylsulfate-ammonia adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine 5',5'''-P1,P3-triphosphate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Dinucleosidetriphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Fragile histidine triad protein",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase FHIT",
                    "type": "synonym"
                },
                {
                    "name": "adenylylsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "adenylylsulfate-ammonia adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "bis(5'-adenosyl)-triphosphatase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "bis(5'-adenosyl)-triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "diadenosine 5',5'''-P1,P3-triphosphate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "dinucleosidetriphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "fragile histidine triad protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fhit",
                    "type": "recommended"
                },
                {
                    "name": "Fhit",
                    "type": "synonym"
                },
                {
                    "name": "Fra14A2",
                    "type": "synonym"
                }
            ],
            "record_id": "O89106-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK91-1",
            "uniprot_ac": "Q9JK91",
            "uniprot_id": "MLH1_MOUSE",
            "refseq_ac": "NP_001311451",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein MLH1",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Mlh1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "colon cancer, nonpolyposis type 2",
                    "type": "synonym"
                },
                {
                    "name": "mutL protein homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "1110035C23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mlh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK91-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43247-1",
            "uniprot_ac": "P43247",
            "uniprot_id": "MSH2_MOUSE",
            "refseq_ac": "NP_032654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "synonym"
                },
                {
                    "name": "MutS protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mutS protein homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh2",
                    "type": "recommended"
                },
                {
                    "name": "Msh2",
                    "type": "synonym"
                }
            ],
            "record_id": "P43247-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43246-1",
            "uniprot_ac": "P43246",
            "uniprot_id": "MSH2_HUMAN",
            "refseq_ac": "NP_000242",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Msh2 transcript",
                    "type": "synonym"
                },
                {
                    "name": "MutS protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "MutS-like 2",
                    "type": "synonym"
                },
                {
                    "name": "hMSH2",
                    "type": "synonym"
                },
                {
                    "name": "mutS homolog 2, colon cancer, nonpolyposis type 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH2",
                    "type": "recommended"
                },
                {
                    "name": "COCA1",
                    "type": "synonym"
                },
                {
                    "name": "FCC1",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC1",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC",
                    "type": "synonym"
                },
                {
                    "name": "LCFS2",
                    "type": "synonym"
                },
                {
                    "name": "LYNCH1",
                    "type": "synonym"
                },
                {
                    "name": "MMRCS2",
                    "type": "synonym"
                },
                {
                    "name": "MSH-2",
                    "type": "synonym"
                },
                {
                    "name": "MSH2",
                    "type": "synonym"
                },
                {
                    "name": "hMSH2",
                    "type": "synonym"
                }
            ],
            "record_id": "P43246-1",
            "evidence": [
                {
                    "id": "158320",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/158320"
                },
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40692-1",
            "uniprot_ac": "P40692",
            "uniprot_id": "MLH1_HUMAN",
            "refseq_ac": "NP_000240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Mlh1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Mlh1",
                    "type": "synonym"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "mutL homolog 1, colon cancer, nonpolyposis type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLH1",
                    "type": "recommended"
                },
                {
                    "name": "COCA2",
                    "type": "synonym"
                },
                {
                    "name": "FCC2",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC2",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC",
                    "type": "synonym"
                },
                {
                    "name": "LYNCH2",
                    "type": "synonym"
                },
                {
                    "name": "MLH-1",
                    "type": "synonym"
                },
                {
                    "name": "MLH1",
                    "type": "synonym"
                },
                {
                    "name": "MMRCS1",
                    "type": "synonym"
                },
                {
                    "name": "hMLH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40692-1",
            "evidence": [
                {
                    "id": "158320",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/158320"
                },
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38920-1",
            "uniprot_ac": "P38920",
            "uniprot_id": "MLH1_YEAST",
            "refseq_ac": "NP_013890",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein MLH1",
                    "type": "recommended"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Post meiotic segregation protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair ATPase MLH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLH1",
                    "type": "recommended"
                },
                {
                    "name": "MLH1",
                    "type": "synonym"
                },
                {
                    "name": "PMS2",
                    "type": "synonym"
                },
                {
                    "name": "YM8520.16",
                    "type": "synonym"
                }
            ],
            "record_id": "P38920-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25847-1",
            "uniprot_ac": "P25847",
            "uniprot_id": "MSH2_YEAST",
            "refseq_ac": "NP_014551",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein MSH2",
                    "type": "recommended"
                },
                {
                    "name": "MutS protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair ATPase MSH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH2",
                    "type": "recommended"
                },
                {
                    "name": "MSH2",
                    "type": "synonym"
                },
                {
                    "name": "O0935",
                    "type": "synonym"
                },
                {
                    "name": "PMS5",
                    "type": "synonym"
                }
            ],
            "record_id": "P25847-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49775-1",
            "uniprot_ac": "P49775",
            "uniprot_id": "HNT2_YEAST",
            "refseq_ac": "NP_010591",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bis(5'-adenosyl)-triphosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.29",
                    "type": "synonym"
                },
                {
                    "name": "AP3A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "AP3Aase",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine 5',5'''-P1,P3-triphosphate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Dinucleosidetriphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Hit family protein 2",
                    "type": "synonym"
                },
                {
                    "name": "bis(5'-adenosyl)-triphosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNT2",
                    "type": "recommended"
                },
                {
                    "name": "APH1",
                    "type": "synonym"
                },
                {
                    "name": "D9740.15",
                    "type": "synonym"
                },
                {
                    "name": "HNT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49775-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97679-1",
            "uniprot_ac": "P97679",
            "uniprot_id": "MLH1_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": "DNA mismatch repair protein Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlh1",
                    "type": "recommended"
                }
            ],
            "record_id": "P97679-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54275-1",
            "uniprot_ac": "P54275",
            "uniprot_id": "MSH2_RAT",
            "refseq_ac": "NP_112320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "synonym"
                },
                {
                    "name": "MutS protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair protein",
                    "type": "synonym"
                },
                {
                    "name": "mutS protein homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh2",
                    "type": "recommended"
                },
                {
                    "name": "Msh2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54275-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIX3-1",
            "uniprot_ac": "Q9JIX3",
            "uniprot_id": "FHIT_RAT",
            "refseq_ac": "NP_068542",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bis(5'-adenosyl)-triphosphatase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.51",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.29",
                    "type": "synonym"
                },
                {
                    "name": "3.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "3.9.1.-",
                    "type": "synonym"
                },
                {
                    "name": "AP3A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "AP3Aase",
                    "type": "synonym"
                },
                {
                    "name": "Adenosine 5'-monophosphoramidase FHIT",
                    "type": "synonym"
                },
                {
                    "name": "Adenylylsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylylsulfate-ammonia adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine 5',5'''-P1,P3-triphosphate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Dinucleosidetriphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Fragile histidine triad protein",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase FHIT",
                    "type": "synonym"
                },
                {
                    "name": "adenylylsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "adenylylsulfate-ammonia adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "bis(5'-adenosyl)-triphosphatase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bis(5'-adenosyl)-triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "diadenosine 5',5'''-P1,P3-triphosphate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "dinucleosidetriphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "fragile histidine triad protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fhit",
                    "type": "recommended"
                },
                {
                    "name": "Fhit",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIX3-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88446-1",
            "uniprot_ac": "O88446",
            "uniprot_id": "S22A3_RAT",
            "refseq_ac": "NP_062103",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 22 member 3",
                    "type": "recommended"
                },
                {
                    "name": "EMT",
                    "type": "synonym"
                },
                {
                    "name": "Extraneuronal monoamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "Organic cation transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "organic cation transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 22 (extraneuronal monoamine transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 22 (organic cation transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 22 member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc22a3",
                    "type": "recommended"
                },
                {
                    "name": "EMT",
                    "type": "synonym"
                },
                {
                    "name": "OCT3",
                    "type": "synonym"
                },
                {
                    "name": "Oct3",
                    "type": "synonym"
                },
                {
                    "name": "Slc22a3",
                    "type": "synonym"
                }
            ],
            "record_id": "O88446-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7C1-1",
            "uniprot_ac": "A1Z7C1",
            "uniprot_id": "A1Z7C1_DROME",
            "refseq_ac": "NP_477022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11482-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mlh1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Mlh1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "CG11482",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11482",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11482",
                    "type": "synonym"
                },
                {
                    "name": "MLH1",
                    "type": "synonym"
                },
                {
                    "name": "Mlh1",
                    "type": "synonym"
                },
                {
                    "name": "dmlh-1",
                    "type": "synonym"
                },
                {
                    "name": "dmlh1",
                    "type": "synonym"
                },
                {
                    "name": "mlh1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7C1-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43248-1",
            "uniprot_ac": "P43248",
            "uniprot_id": "MSH2_DROME",
            "refseq_ac": "NP_001014482",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein spellchecker 1",
                    "type": "recommended"
                },
                {
                    "name": "CG4215-PE",
                    "type": "synonym"
                },
                {
                    "name": "spel1-PE",
                    "type": "synonym"
                },
                {
                    "name": "spellchecker 1",
                    "type": "synonym"
                },
                {
                    "name": "spellchecker1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "spellchecker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spel1",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS01068.9",
                    "type": "synonym"
                },
                {
                    "name": "CG4215",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4215",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4215",
                    "type": "synonym"
                },
                {
                    "name": "Msh2",
                    "type": "synonym"
                },
                {
                    "name": "SPEL1",
                    "type": "synonym"
                },
                {
                    "name": "spel-1",
                    "type": "synonym"
                },
                {
                    "name": "spel1",
                    "type": "synonym"
                },
                {
                    "name": "spel",
                    "type": "synonym"
                }
            ],
            "record_id": "P43248-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49789-1",
            "uniprot_ac": "P49789",
            "uniprot_id": "FHIT_HUMAN",
            "refseq_ac": "NP_001159715",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bis(5'-adenosyl)-triphosphatase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.51",
                    "type": "synonym"
                },
                {
                    "name": "3.6.1.29",
                    "type": "synonym"
                },
                {
                    "name": "3.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "3.9.1.-",
                    "type": "synonym"
                },
                {
                    "name": "AP3A hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "AP3Aase",
                    "type": "synonym"
                },
                {
                    "name": "Adenosine 5'-monophosphoramidase FHIT",
                    "type": "synonym"
                },
                {
                    "name": "Adenylylsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylylsulfate-ammonia adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Diadenosine 5',5'''-P1,P3-triphosphate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Dinucleosidetriphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Fragile histidine triad protein",
                    "type": "synonym"
                },
                {
                    "name": "adenosine 5'-monophosphoramidase FHIT",
                    "type": "synonym"
                },
                {
                    "name": "adenylylsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "adenylylsulfate-ammonia adenylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "bis(5'-adenosyl)-triphosphatase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bis(5'-adenosyl)-triphosphatase",
                    "type": "synonym"
                },
                {
                    "name": "diadenosine 5',5'''-P1,P3-triphosphate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "dinucleosidetriphosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FHIT",
                    "type": "recommended"
                },
                {
                    "name": "AP3Aase",
                    "type": "synonym"
                },
                {
                    "name": "FHIT",
                    "type": "synonym"
                },
                {
                    "name": "FRA3B",
                    "type": "synonym"
                }
            ],
            "record_id": "P49789-1",
            "evidence": [
                {
                    "id": "0050465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050465"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050465"
}