{
    "disease_id": "DOID:14737",
    "recommended_name": {
        "id": "DOID:14737",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14737",
        "name": "craniofrontonasal syndrome",
        "description": "A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton."
    },
    "synonyms": [
        {
            "id": "DOID:14737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14737",
            "name": "CFND",
            "description": ""
        },
        {
            "id": "DOID:14737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14737",
            "name": "CFNS",
            "description": ""
        },
        {
            "id": "DOID:14737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14737",
            "name": "craniofrontonasal dysostosis",
            "description": ""
        },
        {
            "id": "DOID:14737",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14737",
            "name": "craniofrontonasal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010570",
            "name": "craniofrontonasal syndrome",
            "description": "Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism."
        },
        {
            "id": "MONDO:0010570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010570",
            "name": "craniofrontonasal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010570",
            "name": "CFNS",
            "description": ""
        },
        {
            "id": "MONDO:0010570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010570",
            "name": "craniofrontonasal dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0010570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010570",
            "name": "craniofrontonasal syndrome; CFNS",
            "description": ""
        },
        {
            "id": "MONDO:0010570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010570",
            "name": "CFND",
            "description": ""
        },
        {
            "id": "MONDO:0010570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010570",
            "name": "craniofrontonasal dysplasia",
            "description": ""
        },
        {
            "id": "MIM:304110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304110",
            "name": "Craniofrontonasal syndrome",
            "description": "Craniofrontonasal syndrome"
        }
    ]
}