{
    "disease_id": "DOID:0060549",
    "recommended_name": {
        "id": "DOID:0060549",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060549",
        "name": "Barber-Say syndrome",
        "description": "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "MONDO:0008853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008853",
            "name": "Barber-Say syndrome",
            "description": "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia."
        },
        {
            "id": "MONDO:0008853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008853",
            "name": "Barber-Say syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008853",
            "name": "Brown Squard Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008853",
            "name": "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008853",
            "name": "BBRSAY",
            "description": ""
        },
        {
            "id": "MONDO:0008853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008853",
            "name": "Barber Say syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008853",
            "name": "hypertrichosis atrophic skin ectropion macrostomia",
            "description": ""
        },
        {
            "id": "MONDO:0008853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008853",
            "name": "hypertrichosis, atrophic skin, ectropion, and macrostomia",
            "description": ""
        },
        {
            "id": "MIM:209885",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/209885",
            "name": "Barber-Say syndrome",
            "description": "Barber-Say syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060549"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060549",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060549",
            "categories": []
        },
        {
            "id": "MONDO:0008853",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008853",
            "categories": []
        },
        {
            "id": "MIM:209885",
            "database": "MIM",
            "url": "https://www.omim.org/entry/209885",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D030-1",
            "uniprot_ac": "Q9D030",
            "uniprot_id": "TWST2_MOUSE",
            "refseq_ac": "NP_031881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twist-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Dermis-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Dermo-1",
                    "type": "synonym"
                },
                {
                    "name": "dermis-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "twist homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "twist-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Twist2",
                    "type": "recommended"
                },
                {
                    "name": "Dermo1",
                    "type": "synonym"
                },
                {
                    "name": "Twist2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D030-1",
            "evidence": [
                {
                    "id": "0060549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060549"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WVJ9-1",
            "uniprot_ac": "Q8WVJ9",
            "uniprot_id": "TWST2_HUMAN",
            "refseq_ac": "NP_001258822",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Class A basic helix-loop-helix protein 39",
                    "type": "synonym"
                },
                {
                    "name": "Dermis-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Dermo-1",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa39",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 39",
                    "type": "synonym"
                },
                {
                    "name": "dermis-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "twist basic helix-loop-helix transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "twist homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "twist-related bHLH protein Dermo1",
                    "type": "synonym"
                },
                {
                    "name": "twist-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TWIST2",
                    "type": "recommended"
                },
                {
                    "name": "AMS",
                    "type": "synonym"
                },
                {
                    "name": "BBRSAY",
                    "type": "synonym"
                },
                {
                    "name": "BHLHA39",
                    "type": "synonym"
                },
                {
                    "name": "DERMO1",
                    "type": "synonym"
                },
                {
                    "name": "FFDD3",
                    "type": "synonym"
                },
                {
                    "name": "SETLSS",
                    "type": "synonym"
                },
                {
                    "name": "TWIST2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVJ9-1",
            "evidence": [
                {
                    "id": "209885",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/209885"
                },
                {
                    "id": "0060549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060549"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97831-1",
            "uniprot_ac": "P97831",
            "uniprot_id": "TWST2_RAT",
            "refseq_ac": "NP_067723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twist-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "dermo-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "twist basic helix-loop-helix transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "twist homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "twist-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Twist2",
                    "type": "recommended"
                },
                {
                    "name": "Dermo1",
                    "type": "synonym"
                },
                {
                    "name": "Twist2",
                    "type": "synonym"
                }
            ],
            "record_id": "P97831-1",
            "evidence": [
                {
                    "id": "0060549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060549"
                }
            ]
        },
        {
            "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": "0060549",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060549"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060549"
}