{
    "disease_id": "DOID:0060984",
    "recommended_name": {
        "id": "DOID:0060984",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060984",
        "name": "digenic dyskeratosis congenita",
        "description": "A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0031057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031057",
            "name": "dyskeratosis congenita, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0031057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031057",
            "name": "DKCD",
            "description": ""
        },
        {
            "id": "MONDO:0031057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031057",
            "name": "dyskeratosis congenita, digenic",
            "description": ""
        },
        {
            "id": "MIM:620040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620040",
            "name": "Dyskeratosis congenita, digenic",
            "description": "Dyskeratosis congenita, digenic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060984"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060984",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060984",
            "categories": []
        },
        {
            "id": "MONDO:0031057",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031057",
            "categories": []
        },
        {
            "id": "MIM:620040",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620040",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P07607-1",
            "uniprot_ac": "P07607",
            "uniprot_id": "TYSY_MOUSE",
            "refseq_ac": "NP_067263",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.45",
                    "type": "synonym"
                },
                {
                    "name": "TSase",
                    "type": "synonym"
                },
                {
                    "name": "TS",
                    "type": "synonym"
                },
                {
                    "name": "Tsase",
                    "type": "synonym"
                },
                {
                    "name": "thymidylate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyms",
                    "type": "recommended"
                },
                {
                    "name": "Ts",
                    "type": "synonym"
                },
                {
                    "name": "Tyms",
                    "type": "synonym"
                }
            ],
            "record_id": "P07607-1",
            "evidence": [
                {
                    "id": "0060984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04818-1",
            "uniprot_ac": "P04818",
            "uniprot_id": "TYSY_HUMAN",
            "refseq_ac": "NP_001062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.45",
                    "type": "synonym"
                },
                {
                    "name": "TSase",
                    "type": "synonym"
                },
                {
                    "name": "TS",
                    "type": "synonym"
                },
                {
                    "name": "thymidylate synthase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TYMS",
                    "type": "recommended"
                },
                {
                    "name": "DKCD",
                    "type": "synonym"
                },
                {
                    "name": "HST422",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.29",
                    "type": "synonym"
                },
                {
                    "name": "TMS",
                    "type": "synonym"
                },
                {
                    "name": "TS",
                    "type": "synonym"
                },
                {
                    "name": "TYMS",
                    "type": "synonym"
                }
            ],
            "record_id": "P04818-1",
            "evidence": [
                {
                    "id": "620040",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620040"
                },
                {
                    "id": "0060984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7L5Y1-1",
            "uniprot_ac": "Q7L5Y1",
            "uniprot_id": "ENOF1_HUMAN",
            "refseq_ac": "NP_001305689",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial enolase superfamily member 1",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.68",
                    "type": "synonym"
                },
                {
                    "name": "Antisense RNA to thymidylate synthase",
                    "type": "synonym"
                },
                {
                    "name": "L-fuconate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "antisense RNA to thymidylate synthase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial enolase superfamily member 1 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial enolase superfamily member 1",
                    "type": "synonym"
                },
                {
                    "name": "rTS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENOSF1",
                    "type": "recommended"
                },
                {
                    "name": "ENOSF1",
                    "type": "synonym"
                },
                {
                    "name": "FUCD",
                    "type": "synonym"
                },
                {
                    "name": "RTS",
                    "type": "synonym"
                },
                {
                    "name": "TYMSAS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7L5Y1-1",
            "evidence": [
                {
                    "id": "620040",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06785-1",
            "uniprot_ac": "P06785",
            "uniprot_id": "TYSY_YEAST",
            "refseq_ac": "NP_014717",
            "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": "Thymidylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.45",
                    "type": "synonym"
                },
                {
                    "name": "Cell division cycle protein 21",
                    "type": "synonym"
                },
                {
                    "name": "Constitutive RNR3 transcription protein 9",
                    "type": "synonym"
                },
                {
                    "name": "TSase",
                    "type": "synonym"
                },
                {
                    "name": "TS",
                    "type": "synonym"
                },
                {
                    "name": "thymidylate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC21",
                    "type": "recommended"
                },
                {
                    "name": "CDC21",
                    "type": "synonym"
                },
                {
                    "name": "CRT9",
                    "type": "synonym"
                },
                {
                    "name": "TMP1",
                    "type": "synonym"
                },
                {
                    "name": "YOR29-25",
                    "type": "synonym"
                }
            ],
            "record_id": "P06785-1",
            "evidence": [
                {
                    "id": "0060984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45352-1",
            "uniprot_ac": "P45352",
            "uniprot_id": "TYSY_RAT",
            "refseq_ac": "NP_062052",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.45",
                    "type": "synonym"
                },
                {
                    "name": "TSase",
                    "type": "synonym"
                },
                {
                    "name": "TS",
                    "type": "synonym"
                },
                {
                    "name": "thymidylate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyms",
                    "type": "recommended"
                },
                {
                    "name": "Tyms",
                    "type": "synonym"
                }
            ],
            "record_id": "P45352-1",
            "evidence": [
                {
                    "id": "0060984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060984"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76511-1",
            "uniprot_ac": "O76511",
            "uniprot_id": "TYSY_DROME",
            "refseq_ac": "NP_001285570",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thymidylate synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.45",
                    "type": "synonym"
                },
                {
                    "name": "CG3181-PB",
                    "type": "synonym"
                },
                {
                    "name": "TSase",
                    "type": "synonym"
                },
                {
                    "name": "TS",
                    "type": "synonym"
                },
                {
                    "name": "Ts-PB",
                    "type": "synonym"
                },
                {
                    "name": "thymidilate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "thymidylate synthase, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ts",
                    "type": "recommended"
                },
                {
                    "name": "CG3181",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3181",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0024920",
                    "type": "synonym"
                },
                {
                    "name": "TS",
                    "type": "synonym"
                },
                {
                    "name": "Ts",
                    "type": "synonym"
                },
                {
                    "name": "anon-23Ca",
                    "type": "synonym"
                },
                {
                    "name": "c1.5",
                    "type": "synonym"
                }
            ],
            "record_id": "O76511-1",
            "evidence": [
                {
                    "id": "0060984",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060984"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060984"
}