| http://purl.uniprot.org/diseases/6584 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature."xsd:string |