{
    "disease_id": "DOID:0050660",
    "recommended_name": {
        "id": "DOID:0050660",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050660",
        "name": "Beare-Stevenson cutis gyrata syndrome",
        "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0007412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007412",
            "name": "Beare-Stevenson cutis gyrata syndrome",
            "description": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy."
        },
        {
            "id": "MONDO:0007412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007412",
            "name": "Beare-Stevenson cutis gyrata syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007412",
            "name": "BSTVS",
            "description": ""
        },
        {
            "id": "MONDO:0007412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007412",
            "name": "Beare Stevenson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007412",
            "name": "Beare-Stevenson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007412",
            "name": "cutis gyrata - acanthosis nigricans - craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0007412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007412",
            "name": "cutis gyrata syndrome of Beare and Stevenson",
            "description": ""
        },
        {
            "id": "MONDO:0007412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007412",
            "name": "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome",
            "description": ""
        },
        {
            "id": "MIM:123790",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/123790",
            "name": "Beare-Stevenson cutis gyrata syndrome",
            "description": "Beare-Stevenson cutis gyrata syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050660"
    ],
    "unlinked_id_list": []
}