{
    "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": []
}