{
    "disease_id": "DOID:0080789",
    "recommended_name": {
        "id": "DOID:0080789",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080789",
        "name": "Treacher Collins syndrome 1",
        "description": "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0007944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007944",
            "name": "Treacher Collins syndrome 1",
            "description": "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene."
        },
        {
            "id": "MONDO:0007944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007944",
            "name": "TCOF1 Treacher-Collins syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007944",
            "name": "Treacher Collins syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007944",
            "name": "Treacher-Collins syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007944",
            "name": "Treacher-Collins syndrome caused by mutation in TCOF1",
            "description": ""
        },
        {
            "id": "MONDO:0007944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007944",
            "name": "TCS1",
            "description": ""
        },
        {
            "id": "MONDO:0007944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007944",
            "name": "TREACHER COLLINS syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:154500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/154500",
            "name": "Treacher Collins syndrome 1",
            "description": "Treacher Collins syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080789"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080789",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080789",
            "categories": []
        },
        {
            "id": "MONDO:0007944",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007944",
            "categories": []
        },
        {
            "id": "MIM:154500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/154500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F9D9-1",
            "uniprot_ac": "E7F9D9",
            "uniprot_id": "E7F9D9_DANRE",
            "refseq_ac": "XP_002664303",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein tcof1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein tcof1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tcof1",
                    "type": "recommended"
                },
                {
                    "name": "tcof1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F9D9-1",
            "evidence": [
                {
                    "id": "0080789",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080789"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08784-1",
            "uniprot_ac": "O08784",
            "uniprot_id": "TCOF_MOUSE",
            "refseq_ac": "NP_035682",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Treacle protein",
                    "type": "recommended"
                },
                {
                    "name": "Treacher Collins Franceschetti syndrome 1, homolog",
                    "type": "synonym"
                },
                {
                    "name": "Treacher Collins syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "treacher Collins syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "treacle protein isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcof1",
                    "type": "recommended"
                },
                {
                    "name": "Tcof1",
                    "type": "synonym"
                },
                {
                    "name": "treacle",
                    "type": "synonym"
                }
            ],
            "record_id": "O08784-1",
            "evidence": [
                {
                    "id": "0080789",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080789"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13428-1",
            "uniprot_ac": "Q13428",
            "uniprot_id": "TCOF_HUMAN",
            "refseq_ac": "NP_000347",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Treacle protein",
                    "type": "recommended"
                },
                {
                    "name": "Treacher Collins syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "Treacher Collins-Franceschetti syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar trafficking phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "treacle protein isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCOF1",
                    "type": "recommended"
                },
                {
                    "name": "MFD1",
                    "type": "synonym"
                },
                {
                    "name": "TCOF1",
                    "type": "synonym"
                },
                {
                    "name": "TCS1",
                    "type": "synonym"
                },
                {
                    "name": "TCS",
                    "type": "synonym"
                },
                {
                    "name": "treacle",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13428-1",
            "evidence": [
                {
                    "id": "154500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/154500"
                },
                {
                    "id": "0080789",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080789"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A206-1",
            "uniprot_ac": "D4A206",
            "uniprot_id": "D4A206_RAT",
            "refseq_ac": "NP_001382056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Treacher Collins-Franceschetti syndrome 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Treacle ribosome biogenesis factor 1",
                    "type": "synonym"
                },
                {
                    "name": "treacle protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcof1",
                    "type": "recommended"
                },
                {
                    "name": "Tcof1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A206-1",
            "evidence": [
                {
                    "id": "0080789",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080789"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080789"
}