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DOID:0111247 - hypertension and brachydactyly syndrome
Disease Ontology 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.
Synonyms: Bilginturan brachydactyly, Bilginturan syndrome, HTNB, brachydactyly with hypertension, type E brachydactyly with short stature and hypertension,
Xenbase Genes
:
pde3a
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)