{
    "disease_id": "DOID:0081113",
    "recommended_name": {
        "id": "DOID:0081113",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081113",
        "name": "Baraitser-Winter syndrome 2",
        "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "Baraitser-winter syndrome 2",
            "description": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene."
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "ACTG1 Baraitser-Winter cerebrofrontofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1",
            "description": ""
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "Baraitser-Winter syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "Baraitser-winter syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "name": "BRWS2",
            "description": ""
        },
        {
            "id": "MIM:614583",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614583",
            "name": "Baraitser-Winter syndrome 2",
            "description": "Baraitser-Winter syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081113"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081113",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081113",
            "categories": []
        },
        {
            "id": "MONDO:0013812",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013812",
            "categories": []
        },
        {
            "id": "MIM:614583",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614583",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "Q7ZVF9",
            "uniprot_id": "ACTB2_DANRE",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Actin, cytoplasmic 2",
                    "type": "recommended"
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                    "type": "synonym"
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                    "type": "recommended"
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                    "name": "actb2",
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                    "name": "bact2",
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                {
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            ],
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                    "name": "bactzf",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
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            ],
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                    "type": "synonym"
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                    "name": "cytoskeletal gamma-actin",
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                },
                {
                    "name": "epididymis luminal protein 176",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ACTG1",
                    "type": "recommended"
                },
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                    "name": "ACTG1",
                    "type": "synonym"
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                    "name": "ACTG",
                    "type": "synonym"
                },
                {
                    "name": "ACT",
                    "type": "synonym"
                },
                {
                    "name": "DFNA20",
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                },
                {
                    "name": "DFNA26",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "name": "Rattus norvegicus",
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                    "name": "F-actin",
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                },
                {
                    "name": "actin 87E, isoform C",
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                },
                {
                    "name": "actin 87E",
                    "type": "synonym"
                },
                {
                    "name": "actin87E",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Act87E",
                    "type": "recommended"
                },
                {
                    "name": "ACT5",
                    "type": "synonym"
                },
                {
                    "name": "Act87E",
                    "type": "synonym"
                },
                {
                    "name": "Act87e",
                    "type": "synonym"
                },
                {
                    "name": "Actin87E",
                    "type": "synonym"
                },
                {
                    "name": "Actin",
                    "type": "synonym"
                },
                {
                    "name": "ArpC",
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                },
                {
                    "name": "CG18290",
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                },
                {
                    "name": "Dmel\\CG18290",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18290",
                    "type": "synonym"
                },
                {
                    "name": "E",
                    "type": "synonym"
                },
                {
                    "name": "act 87E",
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                },
                {
                    "name": "act87E",
                    "type": "synonym"
                },
                {
                    "name": "actin-87E",
                    "type": "synonym"
                },
                {
                    "name": "actin",
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                },
                {
                    "name": "mus87E",
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                }
            ],
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                {
                    "id": "0081113",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081113"
                }
            ]
        },
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            "uniprot_canonical_ac": "P02572-1",
            "uniprot_ac": "P02572",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Actin-42A",
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                },
                {
                    "name": "3.6.4.-",
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                },
                {
                    "name": "42A actin",
                    "type": "synonym"
                },
                {
                    "name": "Act42A-PA",
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                {
                    "name": "Actin-42A",
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                {
                    "name": "CG12051-PA",
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                    "name": "F-actin",
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                {
                    "name": "actin 42A",
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                },
                {
                    "name": "actin42a",
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                }
            ],
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                    "name": "ACT2",
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                    "name": "ACT42A",
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                {
                    "name": "AFFX-Dros-ACTIN_M_r_at",
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                {
                    "name": "Act42A",
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                },
                {
                    "name": "Act42a",
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                    "name": "Act42",
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                },
                {
                    "name": "Actin/BAP47",
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                {
                    "name": "Actin",
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                },
                {
                    "name": "Act",
                    "type": "synonym"
                },
                {
                    "name": "ArpB",
                    "type": "synonym"
                },
                {
                    "name": "A",
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                },
                {
                    "name": "BAP47",
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                },
                {
                    "name": "CG12051",
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                },
                {
                    "name": "C",
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                },
                {
                    "name": "Dmel\\CG12051",
                    "type": "synonym"
                },
                {
                    "name": "act 42A",
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                },
                {
                    "name": "act42A",
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                },
                {
                    "name": "actin-42A",
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                },
                {
                    "name": "actin",
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                }
            ],
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                    "id": "0081113",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P10987-1",
            "uniprot_ac": "P10987",
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                }
            ],
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                    "name": "Actin-5C",
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                },
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                    "name": "3.6.4.-",
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                },
                {
                    "name": "5C actin",
                    "type": "synonym"
                },
                {
                    "name": "Act5C-PD",
                    "type": "synonym"
                },
                {
                    "name": "CG4027-PD",
                    "type": "synonym"
                },
                {
                    "name": "Dm-actin5C",
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                },
                {
                    "name": "F-actin",
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                },
                {
                    "name": "G-actin",
                    "type": "synonym"
                },
                {
                    "name": "actin 5 C",
                    "type": "synonym"
                },
                {
                    "name": "actin 5C, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "actin 5c",
                    "type": "synonym"
                },
                {
                    "name": "actin A1",
                    "type": "synonym"
                },
                {
                    "name": "actin5C",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-2D2",
                    "type": "synonym"
                },
                {
                    "name": "cellular cytoskeletal beta-actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Act5C",
                    "type": "recommended"
                },
                {
                    "name": "A4V404_DROME",
                    "type": "synonym"
                },
                {
                    "name": "ACT1_DROME",
                    "type": "synonym"
                },
                {
                    "name": "ACT5C",
                    "type": "synonym"
                },
                {
                    "name": "ACT",
                    "type": "synonym"
                },
                {
                    "name": "Ac5C",
                    "type": "synonym"
                },
                {
                    "name": "Act-5C",
                    "type": "synonym"
                },
                {
                    "name": "Act5C",
                    "type": "synonym"
                },
                {
                    "name": "Act5c",
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                },
                {
                    "name": "Act5",
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                },
                {
                    "name": "Actin/BAP47",
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                },
                {
                    "name": "Actin5C",
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                },
                {
                    "name": "Actin",
                    "type": "synonym"
                },
                {
                    "name": "Act",
                    "type": "synonym"
                },
                {
                    "name": "ArpA",
                    "type": "synonym"
                },
                {
                    "name": "A",
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                },
                {
                    "name": "BAP47",
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                {
                    "name": "Bap47",
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                },
                {
                    "name": "CG4027",
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                },
                {
                    "name": "Dmel\\CG4027",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4027",
                    "type": "synonym"
                },
                {
                    "name": "F-ACTIN",
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                },
                {
                    "name": "F-Actin",
                    "type": "synonym"
                },
                {
                    "name": "F-actin",
                    "type": "synonym"
                },
                {
                    "name": "G-actin",
                    "type": "synonym"
                },
                {
                    "name": "M32055",
                    "type": "synonym"
                },
                {
                    "name": "T11",
                    "type": "synonym"
                },
                {
                    "name": "act 5C",
                    "type": "synonym"
                },
                {
                    "name": "act5C",
                    "type": "synonym"
                },
                {
                    "name": "actin5C",
                    "type": "synonym"
                },
                {
                    "name": "actin",
                    "type": "synonym"
                },
                {
                    "name": "actomyosin",
                    "type": "synonym"
                },
                {
                    "name": "act",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe2D2",
                    "type": "synonym"
                },
                {
                    "name": "beta-Actin",
                    "type": "synonym"
                },
                {
                    "name": "beta-actin/Bap47",
                    "type": "synonym"
                },
                {
                    "name": "beta-actin",
                    "type": "synonym"
                },
                {
                    "name": "chrX:5748184..5748304",
                    "type": "synonym"
                },
                {
                    "name": "cyt5C",
                    "type": "synonym"
                },
                {
                    "name": "f-actin",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0009",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0010",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0025",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0079",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0117",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0177",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0245",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0330",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0420",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0486",
                    "type": "synonym"
                }
            ],
            "record_id": "P10987-1",
            "evidence": [
                {
                    "id": "0081113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081113"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081113"
}