Term Name:	hypertension and brachydactyly syndrome
Synonyms:	Bilginturan brachydactyly, Bilginturan syndrome, brachydactyly with hypertension, HTNB, type E brachydactyly with short stature and hypertension
Definition:	A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2.
Ontology:	Human Disease [DOID:0111247]   ( DOID:0111247 )