{
    "disease_id": "DOID:0080538",
    "recommended_name": {
        "id": "DOID:0080538",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080538",
        "name": "Sweeney-Cox syndrome",
        "description": "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0060592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060592",
            "name": "Sweeney-Cox syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060592",
            "name": "Sweeney-Cox syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060592",
            "name": "SWCOS",
            "description": ""
        },
        {
            "id": "MIM:617746",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617746",
            "name": "Sweeney-Cox syndrome",
            "description": "Sweeney-Cox syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080538"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080538",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080538",
            "categories": []
        },
        {
            "id": "MONDO:0060592",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060592",
            "categories": []
        },
        {
            "id": "MIM:617746",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617746",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P26687-1",
            "uniprot_ac": "P26687",
            "uniprot_id": "TWST1_MOUSE",
            "refseq_ac": "NP_035788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twist-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "M-twist",
                    "type": "synonym"
                },
                {
                    "name": "Pluridigite",
                    "type": "synonym"
                },
                {
                    "name": "charlie chaplin",
                    "type": "synonym"
                },
                {
                    "name": "polydactyly EMS",
                    "type": "synonym"
                },
                {
                    "name": "twist gene homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "twist homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "twist-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Twist1",
                    "type": "recommended"
                },
                {
                    "name": "M-Twist",
                    "type": "synonym"
                },
                {
                    "name": "Pde",
                    "type": "synonym"
                },
                {
                    "name": "Ska10",
                    "type": "synonym"
                },
                {
                    "name": "Ska<m10Jus>",
                    "type": "synonym"
                },
                {
                    "name": "Twist1",
                    "type": "synonym"
                },
                {
                    "name": "Twist",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa38",
                    "type": "synonym"
                },
                {
                    "name": "pdt",
                    "type": "synonym"
                }
            ],
            "record_id": "P26687-1",
            "evidence": [
                {
                    "id": "0080538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15672-1",
            "uniprot_ac": "Q15672",
            "uniprot_id": "TWST1_HUMAN",
            "refseq_ac": "NP_000465",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twist-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "B-HLH DNA binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Class A basic helix-loop-helix protein 38",
                    "type": "synonym"
                },
                {
                    "name": "H-twist",
                    "type": "synonym"
                },
                {
                    "name": "TWIST homolog of drosophila",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa38",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 38",
                    "type": "synonym"
                },
                {
                    "name": "twist basic helix-loop-helix transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "twist homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "twist-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TWIST1",
                    "type": "recommended"
                },
                {
                    "name": "ACS3",
                    "type": "synonym"
                },
                {
                    "name": "BHLHA38",
                    "type": "synonym"
                },
                {
                    "name": "BPES2",
                    "type": "synonym"
                },
                {
                    "name": "BPES3",
                    "type": "synonym"
                },
                {
                    "name": "CRS1",
                    "type": "synonym"
                },
                {
                    "name": "CRS",
                    "type": "synonym"
                },
                {
                    "name": "CSO",
                    "type": "synonym"
                },
                {
                    "name": "SCS",
                    "type": "synonym"
                },
                {
                    "name": "SWCOS",
                    "type": "synonym"
                },
                {
                    "name": "TWIST1",
                    "type": "synonym"
                },
                {
                    "name": "TWIST",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa38",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15672-1",
            "evidence": [
                {
                    "id": "617746",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617746"
                },
                {
                    "id": "0080538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPJ1-1",
            "uniprot_ac": "Q9EPJ1",
            "uniprot_id": "Q9EPJ1_RAT",
            "refseq_ac": "NP_445982",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twist-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "twist basic helix-loop-helix transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "twist gene homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "twist homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "twist-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Twist1",
                    "type": "recommended"
                },
                {
                    "name": "Twist1",
                    "type": "synonym"
                },
                {
                    "name": "Twist",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPJ1-1",
            "evidence": [
                {
                    "id": "0080538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080538"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10627-1",
            "uniprot_ac": "P10627",
            "uniprot_id": "TWIST_DROME",
            "refseq_ac": "NP_001033967",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein twist",
                    "type": "recommended"
                },
                {
                    "name": "CG2956-PB",
                    "type": "synonym"
                },
                {
                    "name": "twi-PB",
                    "type": "synonym"
                },
                {
                    "name": "twist, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "twist",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "twi",
                    "type": "recommended"
                },
                {
                    "name": "CG2956",
                    "type": "synonym"
                },
                {
                    "name": "DTwist",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2956",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2956",
                    "type": "synonym"
                },
                {
                    "name": "EC9",
                    "type": "synonym"
                },
                {
                    "name": "TWI",
                    "type": "synonym"
                },
                {
                    "name": "Twist",
                    "type": "synonym"
                },
                {
                    "name": "Twi",
                    "type": "synonym"
                },
                {
                    "name": "Tw",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb17",
                    "type": "synonym"
                },
                {
                    "name": "dip5",
                    "type": "synonym"
                },
                {
                    "name": "twi",
                    "type": "synonym"
                }
            ],
            "record_id": "P10627-1",
            "evidence": [
                {
                    "id": "0080538",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080538"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080538"
}