{
    "disease_id": "DOID:0111081",
    "recommended_name": {
        "id": "DOID:0111081",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111081",
        "name": "Fanconi anemia complementation group T",
        "description": "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0111081",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111081",
            "name": "FANCT",
            "description": ""
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "Fanconi anemia complementation group T",
            "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene."
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "FANCT",
            "description": ""
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "Fanconi Anemia, complementation group type T",
            "description": ""
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "Fanconi anaemia caused by mutation in UBE2T",
            "description": ""
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "Fanconi anaemia complementation group type T",
            "description": ""
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "Fanconi anemia caused by mutation in UBE2T",
            "description": ""
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "Fanconi anemia complementation group type T",
            "description": ""
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "UBE2T Fanconi anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "UBE2T Fanconi anemia",
            "description": ""
        },
        {
            "id": "MONDO:0014638",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "name": "Fanconi anemia, complementation group T",
            "description": ""
        },
        {
            "id": "MIM:616435",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616435",
            "name": "Fanconi anemia complementation group T",
            "description": "Fanconi anemia complementation group T"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111081"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111081",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111081",
            "categories": []
        },
        {
            "id": "MONDO:0014638",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014638",
            "categories": []
        },
        {
            "id": "MIM:616435",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616435",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08BH7-1",
            "uniprot_ac": "Q08BH7",
            "uniprot_id": "UBE2T_DANRE",
            "refseq_ac": "NP_001070763",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-conjugating enzyme E2 T",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.23",
                    "type": "synonym"
                },
                {
                    "name": "E2 ubiquitin-conjugating enzyme T",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carrier protein T",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-protein ligase T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carrier protein T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2 T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase T",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ube2t",
                    "type": "recommended"
                },
                {
                    "name": "fanct",
                    "type": "synonym"
                },
                {
                    "name": "ube2t",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj86h11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153687",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08BH7-1",
            "evidence": [
                {
                    "id": "0111081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQ37-1",
            "uniprot_ac": "Q9CQ37",
            "uniprot_id": "UBE2T_MOUSE",
            "refseq_ac": "NP_001265044",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-conjugating enzyme E2 T",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.23",
                    "type": "synonym"
                },
                {
                    "name": "E2 ubiquitin-conjugating enzyme T",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carrier protein T",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-protein ligase T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carrier protein T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2 T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2T (putative)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase T",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ube2t",
                    "type": "recommended"
                },
                {
                    "name": "2700084L22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ube2t",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQ37-1",
            "evidence": [
                {
                    "id": "0111081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPD8-1",
            "uniprot_ac": "Q9NPD8",
            "uniprot_id": "UBE2T_HUMAN",
            "refseq_ac": "NP_001297255",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-conjugating enzyme E2 T",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.23",
                    "type": "synonym"
                },
                {
                    "name": "Cell proliferation-inducing gene 50 protein",
                    "type": "synonym"
                },
                {
                    "name": "E2 ubiquitin-conjugating enzyme T",
                    "type": "synonym"
                },
                {
                    "name": "HSPC150 protein similar to ubiquitin-conjugating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carrier protein T",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-protein ligase T",
                    "type": "synonym"
                },
                {
                    "name": "cell proliferation-inducing gene 50 protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carrier protein T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin conjugating enzyme E2T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2 T isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2T (putative)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase T",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBE2T",
                    "type": "recommended"
                },
                {
                    "name": "FANCT",
                    "type": "synonym"
                },
                {
                    "name": "HSPC150",
                    "type": "synonym"
                },
                {
                    "name": "PIG50",
                    "type": "synonym"
                },
                {
                    "name": "UBE2T",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPD8-1",
            "evidence": [
                {
                    "id": "616435",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616435"
                },
                {
                    "id": "0111081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6M7-1",
            "uniprot_ac": "G3V6M7",
            "uniprot_id": "G3V6M7_RAT",
            "refseq_ac": "NP_001101814",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-conjugating enzyme E2 T",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.23",
                    "type": "synonym"
                },
                {
                    "name": "E2 ubiquitin-conjugating enzyme T",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin carrier protein T",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-protein ligase T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2 T",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-conjugating enzyme E2T (putative)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ube2t",
                    "type": "recommended"
                },
                {
                    "name": "RGD1310816",
                    "type": "synonym"
                },
                {
                    "name": "Ube2t",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6M7-1",
            "evidence": [
                {
                    "id": "0111081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111081"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111081"
}